That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
An individual in which both alleles at a given locus are identical.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
The genetic complement of MITOCHONDRIA as represented in their DNA.
The systematic study of the complete DNA sequences (GENOME) of organisms.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The transference of a kidney from one human or animal to another.
An immune response with both cellular and humoral components, directed against an allogeneic transplant, whose tissue antigens are not compatible with those of the recipient.
Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.
The survival of a graft in a host, the factors responsible for the survival and the changes occurring within the graft during growth in the host.
The amount of PLASMA flowing to the parts of the KIDNEY that function in the production of urine. It is the amount of plasma perfusing the KIDNEY TUBULES per unit time, generally measured by P-AMINOHIPPURATE clearance. It should be differentiated from RENAL PLASMA FLOW which is approximately 10% greater than the effective renal plasma flow.
Individuals supplying living tissue, organs, cells, blood or blood components for transfer or transplantation to histocompatible recipients.
Membrane glycoproteins consisting of an alpha subunit and a BETA 2-MICROGLOBULIN beta subunit. In humans, highly polymorphic genes on CHROMOSOME 6 encode the alpha subunits of class I antigens and play an important role in determining the serological specificity of the surface antigen. Class I antigens are found on most nucleated cells and are generally detected by their reactivity with alloantisera. These antigens are recognized during GRAFT REJECTION and restrict cell-mediated lysis of virus-infected cells.
The process by which antigen is presented to lymphocytes in a form they can recognize. This is performed by antigen presenting cells (APCs). Some antigens require processing before they can be recognized. Antigen processing consists of ingestion and partial digestion of the antigen by the APC, followed by presentation of fragments on the cell surface. (From Rosen et al., Dictionary of Immunology, 1989)
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
Genetic loci in the vertebrate major histocompatibility complex which encode polymorphic characteristics not related to immune responsiveness or complement activity, e.g., B loci (chicken), DLA (dog), GPLA (guinea pig), H-2 (mouse), RT-1 (rat), HLA-A, -B, and -C class I genes of man.
Large, transmembrane, non-covalently linked glycoproteins (alpha and beta). Both chains can be polymorphic although there is more structural variation in the beta chains. The class II antigens in humans are called HLA-D ANTIGENS and are coded by a gene on chromosome 6. In mice, two genes named IA and IE on chromosome 17 code for the H-2 antigens. The antigens are found on B-lymphocytes, macrophages, epidermal cells, and sperm and are thought to mediate the competence of and cellular cooperation in the immune response. The term IA antigens used to refer only to the proteins encoded by the IA genes in the mouse, but is now used as a generic term for any class II histocompatibility antigen.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)
Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.
Cholesterol derivatives having an additional double bond in any position. 24-Dehydrocholesterol is DESMOSTEROL. The other most prevalent dehydrocholesterol is the 7-isomer. This compound is a precursor of cholesterol and of vitamin D3.
Relatively invariant mode of behavior elicited or determined by a particular situation; may be verbal, postural, or expressive.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Mapping of the KARYOTYPE of a cell.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).
Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.
A 513-kDa protein synthesized in the LIVER. It serves as the major structural protein of low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). It is the ligand for the LDL receptor (RECEPTORS, LDL) that promotes cellular binding and internalization of LDL particles.

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. (1/717)

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Building a comprehensive genomic program for hepatocellular carcinoma. (2/717)

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Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. (3/717)

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Exploring patterns and extent of bias in estimating divergence time from mitochondrial DNA sequence data in a particular lineage: a case study of salamanders (order Caudata). (4/717)

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Diverging alternative splicing fingerprints in the transforming growth factor-beta signaling pathway identified in thoracic aortic aneurysms. (5/717)

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Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. (6/717)

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Targeted sequencing of the human X chromosome exome. (7/717)

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An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction. (8/717)

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Press Release issued Sep 24, 2014: Whole exome sequencing (WES) refers to a technique for sequencing the coding region of the genome (exon). Whole exome sequencing helps to detect rare variants in the exome for identifying genomic cause of various diseases such as cancer, genetic disorders, monogenic disorders and others. Whole exome sequencing is used by research centers, pharmaceutical companies, hospitals, clinics, biotechnology companies and government institutions for sequencing of genome. Some of the application areas for whole exome sequencing are drug discovery and development, agriculture, cancer, personalized medicine, monogenic disorders, diagnostics and others.
...Cambridge MA and Shenzhen China July 22 2014 BGI Tech Solutions C...Complete Genomics highly regarded in the industry for providing propr...Whole exome sequencing on Complete Genomics platform available beginn... With the launch of whole exome sequencing on Complete Genomics platfo...,BGI,Tech,launches,human,whole,exome,sequencing,service,on,complete,genomics,advanced,platform,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
Whole exome sequencing (WES) has recently emerged as an effective approach for identifying genetic variants underlying human diseases. However, considerable time and labour is needed for careful investigation of candidate variants. Although filtration based on population frequencies and functional prediction scores could effectively remove common and neutral variants, hundreds or even thousands of rare deleterious variants still remain. In addition, current WES platforms also provide variant information in flanking noncoding regions, such as promoters, introns and splice sites. Despite of being recognized to harbour causal variants, these regions are usually ignored by current analysis pipelines. We present a novel computational method, called Glints, to overcome the above limitations. Glints is capable of identifying disease-causing SNVs in both coding and flanking noncoding regions from exome sequencing data. The principle behind Glints is that disease-causing variants should manifest their effect at
The Alzheimers Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with
TY - JOUR. T1 - RefCNV. T2 - Identification of gene-based copy number variants using whole exome sequencing. AU - Chang, Lun Ching. AU - Das, Biswajit. AU - Lih, Chih Jian. AU - Si, Han. AU - Camalier, Corinne E.. AU - McGregor, Paul M.. AU - Polley, Eric. PY - 2016/4/27. Y1 - 2016/4/27. N2 - With rapid advances in DNA sequencing technologies, whole exome sequencing (WES) has become a popular approach for detecting somatic mutations in oncology studies. The initial intent of WES was to characterize single nucleotide variants, but it was observed that the number of sequencing reads that mapped to a genomic region correlated with the DNA copy number variants (CNVs). We propose a method RefCNV that uses a reference set to estimate the distribution of the coverage for each exon. The construction of the reference set includes an evaluation of the sources of variability in the coverage distribution. We observed that the processing steps had an impact on the coverage distribution. For each exon, we ...
The falling cost of DNA sequencing has made the technology affordable to many research groups, enabling researchers to link genomic variants to observed phenotypes in a range of species. This review focusses on whole exome sequencing and its applications in humans and other species. The exome has traditionally been defined to consist of only the protein coding portion of the genome; a region where mutations are likely to affect protein structure and function. There are several commercial kits available for exome sequencing in a number of species and, owing to the highly conserved nature of exons, many of these can be applied to other closely related species. The data set produced from exome sequencing is many times smaller than that of whole genome sequencing, making it more easily manageable and the analysis less complex. Exome sequencing for disease gene discovery in humans is well established and has been used successfully to identify mutations that are causative of complex and rare diseases. ...
Exome Sequencing is fast, cost effective and generates a smaller sized data for quick analysis. For whole exome sequencing cost and SNP genotyping visit 1010Genome.
As a result, the entirety of the exome is not translated into protein in every cell. Due to the high genetic heterogeneity of autism, sequencing whole exomes from a large â ¦ Whole Exome Sequencing Guide for Patients and Families ExomeSeq is a test that looks at most of the genes. [23] [24] [25]. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. Genome instability has been identified as one of the underlying hallmarks of cancer. Rare variants may be responsible for a portion of the missing heritability of complex diseases. Several target-enrichment strategies have been developed since the original description of the direct genomic selection (DGS) method in 2005. Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. Whole genome sequencing is a potential ...
We developed a sequence context based model of de novo mutations to create per-gene probabilities of mutation. We noticed a high correlation (0.94) between the probability of a synonymous mutation in a gene and the number of rare synonymous variants identified in that same gene first using the NHLBI. s Exome Sequencing Project data (evs.gs.washington.edu), then with 25,000 exomes analyzed simultaneously (see abstract by MacArthur et al). We predicted the number of variants that we would expect to see in the dataset and, in order to quantify deviations, created a Z score of the chi-squared difference between observation and expectation for both synonymous and missense variation. While the distribution of these Z scores for the synonymous variants was normal, there is a marked shift in the missense distribution towards having fewer variants than predicted ...
Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studies of adult hearing status, it remains unclear whether the genetic architecture of this common sensory loss consists of multiple rare variants each with large effect size or many common susceptibility variants each with small to medium effects. As next generation sequencing is now being utilised in clinical diagnosis, our aim was to explore the viability of diagnosing the genetic cause of hearing loss using whole exome sequencing in individual subjects as in a clinical setting. We performed exome sequencing of thirty patients selected for distinct phenotypic sub-types from well-characterised cohorts of 1479 people with adult-onset hearing loss. Every individual carried predicted pathogenic variants
Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studies of adult hearing status, it remains unclear whether the genetic architecture of this common sensory loss consists of multiple rare variants each with large effect size or many common susceptibility variants each with small to medium effects. As next generation sequencing is now being utilised in clinical diagnosis, our aim was to explore the viability of diagnosing the genetic cause of hearing loss using whole exome sequencing in individual subjects as in a clinical setting. We performed exome sequencing of thirty patients selected for distinct phenotypic sub-types from well-characterised cohorts of 1479 people with adult-onset hearing loss. Every individual carried predicted pathogenic variants
We developed and optimized technical, bioinformatic and interpretive whole exome sequencing (WES) pipelines in a CAP and CLIA certified lab to identify causative mutations underlying disease phenotypes in undiagnosed patients being evaluated clinically for genetic disorders. Approximately 13 Gb of data were generated for each clinical sample and a mean coverage of 160X was achieved with ,95% of the targeted bases covered at 20X or higher. Of the 18773 genes in our exome capture 90% have ,90% of the coding regions covered by WES. Since October 2011, over 1700 WES tests have been submitted to our clinical lab on a fee-for-service basis. The majority of ordering physicians are medical geneticists and neurologists evaluating pediatric-aged patients with neurologic phenotypes who previously had a variety of genetic and other(e.g. imaging) tests without an etiologic diagnosis. To date, 1000 WES tests have been completed and results reported. We identified 367 causative mutant alleles in 265 patients, ...
PURPOSE: To identify biological processes associated with POAG and its subtypes, high-tension (HTG) and normal-tension glaucoma (NTG), by analyzing rare potentially damaging genetic variants.METHODS: A total of 122 and 65 unrelated HTG and NTG participants, respectively, with early onset advanced POAG, 103 non-glaucoma controls and 993 unscreened ethnicity-matched controls were included in this study. Study participants without myocilin disease-causing variants and non-glaucoma controls were subjected to whole exome sequencing on an Illumina HiSeq2000. Exomes of participants were sequenced on an Illumina HiSeq2000. Qualifying variants were rare in the general population (MAF RESULTS: POAG cases showed enrichment of rare variants in camera-type eye development genes (p = 1.40×10-7, corrected p = 3.28×10-4). Implicated eye development genes were related to neuronal or retinal development. HTG cases were significantly enriched for key regulators in the unfolded protein response (UPR) (p = ...
Whole exome sequencing (WES) identification of a rare, damaging, de novo germline MYH9 variant with the IDT xGen Exome Research Panel
Background and hypothesis: Familial dilated cardiomyopathy (DCM) is genetically heterogeneous and is associated with mutations in at least 30 different genes. None of these genes have an expected diagnostic yield of more than 10% complicating genetic diagnosis. Whole exome sequencing (WES) is a powerful alternative for the identification of the causal gene, however variant interpretation remains challenging. We performed WES in a large family with autosomal dominant DCM complicated by end stage heart failure and ventricular arrhythmias. The index of this family was evaluated previously by means of targeted gene panel analysis including 28 genes, but no causal mutation was found.. Methods and results: WES was applied on 2 affected cousins. First, shared heterozygous variants (single nucleotide variants, small insertions and deletions) located inside the exon or at the exon/intron boundary were selected. Synonymous variants were excluded, except if they were located at the exon/intron boundaries. ...
Background-Bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation (CVM). Although highly heritable, few causal variants have been identified. The purpose of this study was to identify genetic variants underlying BAV by whole exome sequencing (WES) a multiplex BAV kindred. Methods and Results-WES was performed on 17 individuals from a single family (BAV = 3, other CVM = 3). Post variant calling error control metrics (ECM) were established after examining the relationship between Mendelian inheritance error rate and coverage, quality score, and call rate. To determine the most effective approach to identifying susceptibility variants from among 54,674 variants passing ECM, we evaluated three variant selection strategies frequently used in WES studies plus extended family linkage. No putative rare, high impact variants were identified in all affected but no unaffected individuals. Eight high impact variants were identified by at least two of the commonly used ...
Soft tissue and bone sarcoma represent a broad spectrum of different pathology and genetic variance. Current chemotherapy regimens are derived from randomised trials and represent empirical treatment. Chemosensitivity testing and whole exome sequencing (WES) may offer personalized chemotherapy treatment based on genetic mutations. A pilot, prospective, non-randomised control experimental study was conducted. Twelve patients with metastatic bone or soft tissue sarcoma that had failed first line chemotherapy treatment were enrolled for this study. Human tissue taken at surgical biopsy under general anaesthetic was divided between two arms of the trial. Subsections of the tumour were used for WES and the remainder was implanted subcutaneously in immunodeficient mice (PDX). Results of WES were analysed using a bioinformatics pipeline to identify mutations conferring susceptibility to kinase inhibitors and common chemotherapeutic agents. PDX models exhibiting successful growth underwent WES of the tumour and
Pinpointing genes involved in non-right-handedness has the potential to clarify developmental contributions to human brain lateralization. Major-gene models have been considered for human handedness which allow for phenocopy and reduced penetrance, i.e. an imperfect correspondence between genotype and phenotype. However, a recent genome-wide association scan did not detect any common polymorphisms with substantial genetic effects. Previous linkage studies in families have also not yielded significant findings. Genetic heterogeneity and/or polygenicity are therefore indicated, but it remains possible that relatively rare, or even unique, major-genetic effects may be detectable in certain extended families with many non-right-handed members. Here we applied whole exome sequencing to 17 members from a single, large consanguineous family from Pakistan. Multipoint linkage analysis across all autosomes did not yield clear candidate genomic regions for involvement in the trait and single-point analysis ...
Dive into the research topics of Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia. Together they form a unique fingerprint. ...
Our extensive range of QIAseq whole exome sequencing kits delivers exceptional coverage uniformity, no matter the GC composition of your target
Our extensive range of QIAseq whole exome sequencing kits delivers exceptional coverage uniformity, no matter the GC composition of your target
Our extensive range of QIAseq whole exome sequencing kits delivers exceptional coverage uniformity, no matter the GC composition of your target
Nadine Norton, Duanxiang Li, Evadnie Rampersaud, Ana Morales, Eden R. Martin, Stephan Zuchner, Shengru Guo, Michael Gonzalez, Dale J. Hedges, Peggy D. Robertson, Niklas Krumm, Deborah A. Nickerson and Ray E. Hershberger on behalf of the National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team ...
Human의 유전체 중에서 단백질 발현과 관련된 정보를 담고 있는 Exon 전체 영역(Exome)을 capture함으로써 Exome 부분에 대한 염기서열 정보를 알 수 있습니다. SNV(Single Nucleotide Variant), InDel(Insertion/Deletion), CNV(Copy Number Variation), Rearrangement에 대한 정보를 얻을 수 있습니다 ...
The exomes of 20 individuals with sporadic ASD patients and their parents (trio-based study) were sequenced. Totally, 21 de novo mutations were identified and 11 of these mutations were altering the protein structure. The researchers suggested that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASD.52 Sanders et al.53 showed a total of 279 identified de novo coding mutations using WES of 928 individuals. Interestingly, two independent nonsense variants disrupt the same SCN2A gene. A total of 677 individual exomes from 209 families were sequenced in 2012. Moreover, 39% (49 of 126) of the most severe de novo mutations were related with a highly interconnected β-catenin/chromatin remodelling protein network as new candidate genes for autism. In probands exomes, protein-altering mutations were observed in CHD8 and NTNG1 genes.54 In another study, Neale et al.55 assessed the role of de novo mutations by sequencing the exomes of ASD cases and their parents ...
Teaching a new course (Microbial Genomics and Bioinformatics) has kept me pretty busy this quarter, so Im a bit behind on announcing lab developments. With the bulk of teaching behind me, Im now going to play a little catch-up with the next few posts.. First up, we published a paper in BMC Genomics entitled Exome capture from saliva produces high quality genomic and metagenomic data in collaboration with several other research groups, most notably the labs of Brenna Henn (Stony Brook) and Jeff Kidd (U Michigan).. We collected saliva samples from several Khoesan individuals, including several that live traditional hunter-gatherer lifestyles, and subjected DNA extracted from these samples to human exome capture and sequencing. This targeted sequencing approach facilitated population genetic analysis of human coding sequences. But, a fraction of the sequences didnt show any discernible similarity to the human genome. We compared this fraction of sequences to genomes of known oral microbiota ...
Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining the causative mutation from a substantial number of bystander variations that do not play any role in the disease etiology. Current strategies to analyze variations have mainly relied on genetic and functional arguments such as mode of inheritance, conservation, and loss of function prediction. Here, we demonstrate that disease-network analysis provides an additional layer of information to stratify variations even in the presence of incomplete sequencing coverage, a known limitation of exome sequencing. We studied a case of Hereditary Spastic Paraparesis (HSP) in a single inbred Palestinian family. HSP is a group of neuropathological disorders that are characterized by abnormal gait and spasticity of the lower limbs. Forty-five loci have been associated with HSP and lesions in 20 genes have been ...
TY - JOUR. T1 - Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. AU - Deelen, Patrick. AU - van Dam, Sipko. AU - Herkert, Johanna C. AU - Karjalainen, Juha M. AU - Brugge, Harm. AU - Abbott, Kristin M. AU - van Diemen, Cleo C. AU - van der Zwaag, Paul A. AU - Gerkes, Erica H. AU - Zonneveld-Huijssoon, Evelien. AU - Boer-Bergsma, Jelkje J. AU - Folkertsma, Pytrik. AU - Gillett, Tessa. AU - van der Velde, K Joeri. AU - Kanninga, Roan. AU - van den Akker, Peter C. AU - Jan, Sabrina Z. AU - Hoorntje, Edgar T. AU - Te Rijdt, Wouter P. AU - Vos, Yvonne J. AU - Jongbloed, Jan D H. AU - van Ravenswaaij-Arts, Conny M A. AU - Sinke, Richard. AU - Sikkema-Raddatz, Birgit. AU - Kerstjens-Frederikse, Wilhelmina S. AU - Swertz, Morris A. AU - Franke, Lude. PY - 2019/6/28. Y1 - 2019/6/28. N2 - The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge on the genes that cause ...
FFPE and HOPE fixed specimen were comparable in DNA quality for downstream research purposes. Furthermore, FFPE tumor and fresh frozen tumor exome sequencing data, from the same patient, showed an overlap in the SNV analysis. This led to the central aim which included the analysis of somatic copy number alterations (SCNA) using whole exome sequencing on five CRPC and paired normal FFPE samples by the SOLiD4 next generation sequencing platform. The sequencing data identified two genes, YWHAZ and PTK2. Both genes, located on chromosome 8, were amplified on all five sequenced patients. Furthermore, the amplification frequency of both genes increased depending on the stage of PCa: prostate confined or localized PCa, lymph node metastasized PCa and CRPC. YWHAZ knockdown in the PC-3 cell line impaired proliferation and migration. Similarly, PTK2 inhibition, using a pharmacological inhibitor, TAE226 inhibitor, significantly affected both cell migration and proliferation at a concentration of 10 μM. ...
Paper accepted: Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease in the International Journal of Cardiology
In Islas previous genetic testing she had done it had showed the variant in one copy of the CRB1 gene. In cases of LCA caused by the CRB1 gene, you would usually find change in both copies of the gene. So before they get Isla started on the Whole Exome Sequencing study, the study team wants to look at the CRB1 gene again, in a different way to be sure they are not missing a change in the second copy of the gene. This additional way of looking at the gene is called Deletion/Duplication Testing. Which means they will take Islas blood thats stored from the initial draw and use it to look at that particular gene again. Once this testing starts, it will be about a month before we know any answers and move forward with the Whole Exome Sequencing study. I will keep you posted as we know more ...
The haploid human genome is composed of three billion base pairs, about one percent of which consists of exonic regions, the coding sequence for functional proteins, also now known as the exome. The development of next-generation sequencing makes it possible from a technical and economic standpoint to sequence an individuals exome but at the cost of generating long lists of gene variants that are not straightforward to interpret. Various public consortiums such as the 1000 Genomes Project and the NHLBI Exome Sequencing Project have sequenced the exomes and a subset of entire genomes of over 2500 control individuals with ongoing efforts to further catalogue genetic variation in humans.1 The use of these public databases facilitates the interpretation of these variant lists produced by exome sequencing and, as a result, novel genetic variants linked to disease are being discovered and reported at a record rate. However, the interpretation of these results and their bearing on diagnosis, ...
Continuous advancement in sequencing technologies increases the throughput of DNA sequencing, while at the same time contributes sharply to decreasing its cost. Although sequencing costs have fallen, whole genome sequencing is still quite expensive, and data interpretation remains challenging. Therefore, whole genome sequencing is not the most appropriate choice for all investigations. The ability to target certain regions of the genome, such as protein and or RNA-coding exons, is an attractive alternative for many experiments. In recent times, target enrichment by hybridization technologies has demonstrated rapid progress in development and usage by the research and diagnostic community.. We present a comparative study of four whole exome capture technologies from three manufacturers, designed to reveal important performance aspects of the technologies. To address this, we studied six parameters for each technology: the portion of target bases representing different exome databases, target ...
Adult body height is a quantitative trait for which genome-wide association studies (GWAS) have identified numerous loci, primarily in European populations. These loci, comprising common variants, explain |10% of the phenotypic variance in height. We searched for novel associations between height and common (minor allele frequency, MAF ≥5%) or infrequent (0.5% | MAF | 5%) variants across the exome in African Americans. Using a reference panel of 1692 African Americans and 471 Europeans from the National Heart, Lung, and Blood Institutes (NHLBI) Exome Sequencing Project (ESP), we imputed whole-exome sequence data into 13 719 African Americans with existing array-based GWAS data (discovery). Variants achieving a height-association threshold of P | 5E-06 in the imputed dataset were followed up in an independent sample of 1989 African Americans with whole-exome sequence data (replication). We used P | 2.5E-07 (=0.05/196 779 variants) to define statistically significant associations in meta-analyses
BGIs Whole Clinical Exome Sequencing examines the DNA sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases.
Shi, Fan, Tibbits, Josquin, Pasam, Raj K., Kay, Pippa, Wong, Debbie, Petkowski, Joanna, Forrest, Kerrie L., Hayes, Ben J., Akhunova, Alina, Davies, John, Webb, Steven, Spangenberg, German C., Akhunov, Eduard, Hayden, Matthew J. and Daetwyler, Hans D. (2017) Exome sequence genotype imputation in globally diverse hexaploid wheat accessions. Theoretical and Applied Genetics, 130 7: 1393-1404. doi:10.1007/s00122-017-2895-3 ...
http://ift.tt/2tsxIoU This Genetics in Medicine podcast discusses the following article: Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development http://ift.tt/2u1I8ZR via IFTTT
Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic β-cells; recessive inactivating mutations in the ABCC8 and KCNJ11 genes represent the most common events. Despite the advances in understanding the molecular pathogenesis of CHI, specific genetic determinants in about 50 % of the CHI patients remain unknown, suggesting additional locus heterogeneity. In order to search for novel loci contributing to the pathogenesis of CHI, we combined a family-based association study, using the transmission disequilibrium test on 17 CHI patients lacking mutations in ABCC8/KCNJ11, with a whole-exome sequencing analysis performed on 10 probands. This strategy allowed the identification of the potential causative mutations in genes implicated in the regulation of insulin secretion such as transmembrane proteins (CACNA1A, KCNH6, ...
We used whole-exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment. An in-silico predicted missense variant in REST (rs3796529) was found exclusively in subjects with slow hippocampal volume loss and validated using unbiased whole-brain analysis and meta-analysis across 5 independent cohorts. REST is a master regulator of neurogenesis and neuronal differentiation that has not been previously implicated in Alzheimers disease. These findings nominate REST and its functional pathways as protective and illustrate the potential of combining next-generation sequencing with neuroimaging to discover novel disease mechanisms and potential therapeutic targets.
In the current study, we found 7 variants that could affect protein function through exome sequencing followed by subsequent filtering and selection by SIFT, Polyphen-2, and MutationTaster. We searched literatures regarding potential relationship between the variants and breast cancer. Among the 7 variants, 3 variants were related to breast cancer. The XCR1, a chemokine receptor belonging to the G protein-coupled receptor superfamily, has been known to be involved in cytotoxic immune response [1718]. With regard to breast cancer, Gantsev et al. [19] demonstrated the increase in expression of the genes CCL16, XCR1, CYFIP2, and TNFSF14 in newly formed lymph nodes in breast cancer. The DLL1 gene encodes for delta-like protein 1, which acts as a ligand for Notch receptors that engage in oncogenic conversion of human breast epithelial cells [20]. Furthermore, inhibition of Notch signaling is suggested to be beneficial for breast cancer [21]. The CCNF, a member of the cyclin family, is known to be ...
Genome-wide association studies (GWAS) are widely used to identify loci associated with phenotypic traits in the domestic dog that has emerged as a model for Mendelian and complex traits. However, a disadvantage of GWAS is that it always requires subsequent fine-mapping or sequencing to pinpoint causal mutations. Here, we performed whole exome sequencing (WES) and canine high-density (cHD) SNP genotyping of 28 dogs from 3 breeds to compare the SNP and linkage disequilibrium characteristics together with the power and mapping precision of exome-guided GWAS (EG-GWAS) versus cHD-based GWAS. Using simulated phenotypes, we showed that EG-GWAS has a higher power than cHD to detect associations within target regions and less power outside target regions, with power being influenced further by sample size and SNP density. We analyzed two real phenotypes (hair length and furnishing), that are fixed in certain breeds to characterize mapping precision of the known causal mutations. EG-GWAS identified the ...
Through this technique we can gaze into the entire genome. The more established whole exome sequencing (WES) approach only looks at the coding region of the genome - the area that codes for proteins and makes up only 1-2% of your genetic information. WGS goes beyond the exome and explores the rest of the genome or the non-coding region.. Its unknown what proportion of patients carry a disease-causing mutation in their non-coding genome, but our hope is to provide more answers for our families by exploring the full genome. WGS also provides a more consistent and clear read of the genetic sequence compared to WES.. In WGS, after reading the code, the next step is making sense of a huge amount of sequence data and to interpret it in the context of a patients clinical picture. Ideally, our interpretation would provide clinicians, patients and families with fast, reliable information about a patients genetic makeup. Such valuable information could potentially impact the treatment strategy for ...
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, …
Test Information: Tumor exome sequencing is used to identify clinically significant genetic variants in a patients tumor that may have therapeutic, prognostic, and/or diagnostic implications. This test targets the exons, which are the protein coding regions of the genome. Variants included on the report are limited to those classified as either Tier 1 , Tier 2, or Tier 3 with evidence towards somatic origin or with potential clinical significance. Methodology: This test has been designed to assess variants occurring within protein coding regions and splice junctions of RefSeq genes. Nucleic acid from the submitted specimen is enriched for coding and adjacent noncoding (splice) regions of the genes using the IDT xGen Exome (Integrated DNA Technologies, Coralville, IA). The library products are sequenced with 2 by 150 bp reads on either the Illumina NextSeq or NovaSeq sequencing instruments (Illumina, San Diego, CA). After alignment to the reference genome (GRCh37/hg19), off target, low quality, ...
Atıf İçin Kopyala Kohistani N., Puchalka J., Racek T., Rezaei N., ÜNAL S. , ÜNAL S. , ...Daha Fazla 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, Prague, Çek Cumhuriyeti, 29 Ekim - 01 Kasım 2014, cilt.34 ...
The identification of recurrent driver mutations by whole-exome sequencing (WES) of fresh-frozen human cancers and the subsequent development of novel targeted therapies have recently transformed the treatment of many cancers including melanoma. In routine clinical practice, fresh-frozen tissue is rarely available and mutation testing usually needs to be carried out on archival formalin fixed, paraffin embedded (FFPE) tissue, from which DNA is typically fragmented, cross-linked and of lower quality. In this study we aimed to determine whether WES data generated from genomic DNA (gDNA) extracted from FFPE tissues can be produced reliably and of clinically-actionable standard. In this study of ten melanoma patients, we compared WES data produced from analysis of gDNA isolated from FFPE tumour tissue with that isolated from fresh-frozen tumour tissue from the same specimen. FFPE samples were sequenced using both Illuminas Nextera and NimbleGen SeqCap exome capture kits. To examine mutations between the
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions, Tan, T.Y., Dillon, O.J., Stark, Z., Schofield, D., Alam, K., Shrestha, R., Chong, B., Phelan, D., Brett, G.R., Creed, E., Jarmolowicz, A., Yap, P., Walsh, M., Downie, L., Amor, D.A., Savarirayan, R., McGillivray, G., Yeung, A., Peters, H., Robertson, S.J., Robinson, A.J., Macciocca, I., Sadedin, S., Bell, K., Oshlack, A., Georgeson, P., Thorne, N., Gaff, C., White, S.M, JAMA Pediatrics. Prospective comparison of the cost-effectiveness of the clinical whole exome sequencing to usual care overwhelmingly supports early use and reimbursement, Stark, Z., Schofield, D., Alam, K., Wilson, W., Mupfeki, N., Macciocca, I., Shrestha, R., White, S.M., Gaff, C., Genetics in Medicine. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy, Walsh, M., Bell, K.M., Chong, B., Creed, E., Brett, G.R., Pope, K., Thorne, N.P., Sadedin, S., Georgeson, P., Phelan, ...
Case Study: Kabuki Syndrome. As a demonstration of DNASTARs pipeline, a rare Mendelian disorder known as Kabuki syndrome was used. Exome data sets were obtained through dbGaP. These data sets were from the published Kabuki syndrome study (Ng et. al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 30-35 (2010)). The syndrome, which is caused by autosomal dominant mutations, is rare with approximately 400 cases reported worldwide.. Ten case and eight control exome data sets were independently aligned to the human genome reference sequence using SeqMan NGen which also identified and annotated variants. Variants from each assembly were then loaded together into ArrayStar resulting in over 5.7 million independent positions located in about 32,000 genes across all samples after coalescing. The samples were then organized into two groups, Kabuki and Control, to facilitate subsequent filtering.. We first filtered at the variant level making three assumptions ...
Ns done by the Polyphen-2 software used by the Exome Variant Server (EVS) database to predict the effect of amino acid substitution on 115103-85-0 manufacturer
A variant of uncertain significance has been identified in the CACNA1C gene. The V595I variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in the Exome Aggregation Consortium or with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, the V595I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available ...
EXOME. Xconomy, Inc. Retrieved 29 February 2016. "Navilyst Medical Announces Global Debut Today: Former Boston Scientific ...
Exome. Retrieved 2 November 2015. CS1 maint: discouraged parameter (link) Meiling, Brittany (May 31, 2015). "Clinic for Special ...
... exome. Retrieved 10 January 2017. CS1 maint: discouraged parameter (link) "Company Timeline & Milestones". Genomic Health. ...
Vinluan, Frank (19 July 2018). "Fresh Off Bristol Buyout, IFM Backers Raise $31M to Plot a Second Strike". exome. Boston: ... Vinluan, Frank (23 May 2017). "Novartis' Martin Seidel Joins IFM Therapeutics as V.P. of R&D". exome. Boston: Xconomy. ... Fidler, Ben (22 June 2016). "Atlas, Novartis Put $27M Into IFM to Battle Cancer, Autoimmune Diseases". exome. Boston: Xconomy. ... Vinluan, Frank (6 September 2018). "Harvard Spinout 28-7 Launches with $65M for MicroRNA Cancer Drugs". exome. Boston: Xconomy ...
EXOME. Retrieved 16 January 2018. CS1 maint: discouraged parameter (link) "Dr. Joshua Boger". The Multi-Regional Clinical ... EXOME. Retrieved 19 January 2018. CS1 maint: discouraged parameter (link) Proffitt, Allison (May 9, 2008). "Joshua Boger: ... EXOME. Retrieved 16 January 2018. CS1 maint: discouraged parameter (link) Seiffert, Don (October 31, 2014). "Vertex founder ...
... exome. Retrieved 30 November 2018. CS1 maint: discouraged parameter (link) Berkrot, Bill (July 14, 2015). "Celgene to buy ...
Lash, Alex (20 October 2015). "What's Your DNA Worth? The Scramble To Cash In On the Genome". exome. Archived from the original ...
Helix uses NGS to sequence a proprietary assay called Exome+, a version of Exome sequencing the company claims to provide 100 ... "Whole Exome Sequencing , Detect exonic variants". www.illumina.com. Retrieved 2018-01-23.. ...
... exome projects and exon array design. Due to the consensus annotation of CCDS exons by the independent annotation groups, exome ... and these exons have been used as coding region targets in commercially available exome kits. The CCDS data set size has ... "A comparative analysis of exome capture". Genome Biol. 12 (9): R97. doi:10.1186/gb-2011-12-9-r97. PMC 3308060. PMID 21958622. ...
Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN (May 2014). "Jannovar: a java library for exome annotation". Human ... varied functional annotations could improve rare variants association analysis power of whole exome and whole genome sequencing ... a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data". Bioinformatics. 28 (2 ...
August 2008). Schork NJ (ed.). "Genetic variation in an individual human exome". PLOS Genetics. 4 (8): e1000160. doi:10.1371/ ...
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. (*corresponding authors) Nature 2012; 488:106-110 ...
"Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature Genetics. 46 (2): 161-165. doi:10.1038/ng. ...
"Entrez Gene: zinc finger protein 644". Shi, Yi (2011). "Exome Sequencing Identifies ZNF644 Mutations in High Myopia". PLOS ...
September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics. 42 (9): 790-3. ... September 2015). "Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a ... August 2012). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409): 106-10. doi: ...
August 2012). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409): 106-10. doi: ...
Meng, J.; Cui, X.; Rao, M. K.; Chen, Y.; Huang, Y. (14 April 2013). "Exome-based analysis for RNA epigenome sequencing data". ... Peak calling may be conducted on transcriptome/exome as well to RNA epigenome sequencing data from MeRIPseq or m6Aseq for ...
Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere ...
February 2014). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature Genetics. 46 (2): 161-5. ...
2014). "Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis ... He also co-authored a handbook on exome sequencing and analysis for clinicians. The GUaRDIAN consortium includes over 250 ... Sivadas A, Scaria V (July 2018). "Pharmacogenomic survey of Qatari populations using whole-genome and exome sequences". The ... Sarant L (2016). "Qatar exome study: An advancement in precision medicine". Nature Middle East. doi:10.1038/nmiddleeast. ...
Vivelo A (25 August 2013). "Characterization of Unique Features of the Denisovan Exome". Archived from the original on 29 ...
Exome sequencing is underway with the first batch of 50,000 sequences due to be released in mid-2019. Full genome sequencing ... In 2019 exome sequence data from 50,000 persons was released, with 200,000 being available by 2020. In 2020 20,000 volunteers ... "UK Biobank makes available new exome sequencing data". www.ukbiobank.ac.uk. 26 October 2020. Retrieved 13 March 2021. "UK ...
"Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Hum. Mutat. 32 (11): 1225-31. doi:10.1002/humu. ...
Opitz JM, Jorde LB (July 27, 2011). "Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle". The New England Journal of ...
December 2010). "Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia". The New England Journal of Medicine ...
The rapid drop in cost of whole exome sequencing and whole genome sequencing in the last five years has resulted in the ... February 2017). "Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG ... whole exome sequencing), or most of the genome (whole genome sequencing). With time, this technology is expected to be able to ... North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol". Trials. 19 (1 ...
"Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa". American Journal of Human Genetics. 88 (2): 201-6. ... "Clinical application of exome sequencing in undiagnosed genetic conditions". Journal of Medical Genetics. 49 (6): 353-61. doi: ...
Zhao F, Wu J, Xue A, Su Y, Wang X, Lu X, Zhou Z, Qu J, Zhou X (Apr 2013). "Exome sequencing reveals CCDC111 mutation associated ...
Neves, Leandro G.; Davis, John M.; Barbazuk, William B.; Kirst, Matias (2013). "Whole-exome targeted sequencing of the ...
EXOME. all the information, none of the junk , biotech • healthcare • life sciences. ...
... exome sequencing is no longer a passing fad. ... candidate genes for Freeman-Sheldon syndrome using exome ...
Whole exome sequencing could play an exciting new role in the diagnosis of inborn errors of immunity, but there are limitations ... Whole Exome Sequencing and Whole Genome Sequencing Analysis Pipeline. *Choosing the Appropriate Next-generation Sequencing ... Whole Exome Sequencing and Whole Genome Sequencing Analysis Pipeline. *Choosing the Appropriate Next-generation Sequencing ... Whole Exome Sequencing in Inborn Errors of Immunity. Use the Power but Mind the Limits. ...
News on NGS technologies, RNA-seq, clinical sequencing, & sample prep in genetics, genomics, and molecular diagnostics from GenomeWeb.
By the end of 2019, Regeneron plans to sequence the exomes of all 500,000 people within the UK Biobank resource, all with ...
Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines Much of basic ... Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis UCLA researchers have found that a state-of-the- ... Combined whole exome tumor and blood sequencing in pediatric cancer patients revealed mutations that could help explain the ... Whole-exome sequencing of both colorectal adenomas (precancers often called polyps) and intestinal mucosa at risk for ...
Figure 1: Mitochondrial genomes assembled from whole-exome sequence data generated from peripheral blood of a human individual ... Picardi, E., Pesole, G. Mitochondrial genomes gleaned from human whole-exome sequencing. Nat Methods 9, 523-524 (2012) doi: ... Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing ... Mitochondrial genomes gleaned from human whole-exome sequencing. *Ernesto Picardi1. ,2. & ...
Genome and ExomeShow Your DNA is your own personal blueprint for life. The genome includes a persons entire DNA, both the ... The exome includes only the exons (the parts used to make proteins). The introns and other non-coding sequences of DNA are not ... If you think of the genome as all of the action in a football game, the exome is like the game highlights with many of the ... Most patients who have whole exome sequencing (WES) have had other genetic testing that did not find a genetic cause of their ...
As whole exome sequencing (WES) and whole genome sequencing (WGS) technologies are increasingly used in clinical practice, ... Economic Evaluation of Exome and Genome Sequencing in Child Health. ...
Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.. Natarajan P, Bis JC, Bielak LF, Cox AJ, Dörr M, ... Exome-wide association meta-analysis demonstrates that protein-coding variants in APOB and APOE associate with subclinical ... A meta-analysis of exome-wide association studies was performed across cohorts for CAC and carotid intima-media thickness. APOB ... carotid intima-media thickness; coronary artery calcification; exome; genome-wide association study; genomics ...
Whole exome sequencing and whole genome sequencing are methods to rapidly identify genetic variations. Learn more about these ... Together, all the exons in a genome are known as the exome, and the method of sequencing them is known as whole exome ... Two methods, whole exome sequencing and whole genome sequencing, are increasingly used in healthcare and research to identify ... Continued study of exome and genome sequences can help determine whether new genetic variations are associated with health ...
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The plasma exome service can be ordered as a stand-alone assay, or reflexively for Signatera ctDNA-positive cases. Many ... The plasma exome capability adds an important component to our suite of services for cancer researchers, said Eric Lindquist, ... There are multiple benefits to the new plasma exome sequencing offering, including the ability to design Signatera™ assays when ... service for whole exome sequencing (WES) of circulating tumor DNA, using plasma samples from patients with cancer. The new ...
Here we report a method for whole-exome sequencing coupling Roche/NimbleGen whole exome arrays to the Illumina DNA sequencing ... Coupling of NimbleGen Whole-Exome Capture to Illumina Sequencing.. The Roche/NimbleGen whole-exome array capture protocols were ... Such studies can be achieved either by whole-exome sequencing of all subjects or by sequencing the exome of a subset of ... Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Murim Choi, Ute I. Scholl, Weizhen Ji, Tiewen ...
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.. Musunuru K1, Pirruccello JP, Do R, Peloso GM, ... Exome sequencing links gene mutation in angiopoietin-like protein 3 with low-density lipoprotein cholesterol. [Circ Cardiovasc ... We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked ... of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome ...
Per Exome: $10.90hr/5.45 exomes = $2. F1.16xlarge: $22.80 (DRAGEN) + $13.20 (Compute) = $36.00/hr. Per Exome: $36.00hr/12 ... 2 per Exome). Sold by: Latest Version: 2.2 The DRAGEN Complete Suite (Exome) enables ultra-rapid analysis of Next Generation ... The DRAGEN CS (Exome) includes a host of pipelines including our DRAGEN Germline V2 Pipeline, DRAGEN Somatic V2 Pipeline (T and ... Before running the DRAGEN Complete Suite (Exome), please be aware of the following limitations:. - Mixture of single-end and ...
Per Exome: $10.90hr/5.45 exomes = $2. F1.16xlarge: $22.80 (DRAGEN) + $13.20 (Compute) = $36.00/hr. Per Exome: $36.00hr/12 ... 2 per Exome). By: Edico Genome Latest Version: 2.2 The DRAGEN Complete Suite (Exome) enables ultra-rapid analysis of Next ... The DRAGEN CS (Exome) includes a host of pipelines including our DRAGEN Germline V2 Pipeline, DRAGEN Somatic V2 Pipeline (T and ... A new version of the DRAGEN Complete Suite is available under a standalone app for BOTH genomes and exomes. Please note that ...
Whole-exome sequencing (WES) can identify a genetic cause for almost one-third of pediatric kidney transplant recipients, ... Exome Sequencing Beneficial for Pediatric Kidney Recipients. TUESDAY, Jan. 22, 2019 -- Whole-exome sequencing (WES) can ...
Richard Gibbs commented, "The higher coverage afforded by focusing on the exome at approximately 120x for clinical exomes ... Individual Insight into Whole Genome or Exome Sequencing. by Kathy Jones on June 29, 2013 at 9:07 PM Genetics & Stem Cells News ... Exome sequencing is faster and cheaper, but concerns have previously been raised that it misses important information. ... Exome sequencing had fewer false positives, and a greater sensitivity due to the higher coverage achieved when focusing only in ...
In conclusion, this study revealed the genetic defects in the USH2A gene and demonstrated the robustness of targeted exome ... A total of 144 known genes of inherited retinal diseases were selected for deep exome resequencing. Through systematic data ...
... Nature. 2014 Nov 27;515(7528):572-6 ... We developed an approach that combines whole-exome and transcriptome sequencing analysis with mass spectrometry to identify neo ... of patient tumour-infiltrating lymphocytes for their ability to recognize antigen libraries constructed following tumour exome ...
Exome Sequencing in Autistic Spectrum Disorder. The safety and scientific validity of this study is the responsibility of the ... Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis. Study Start Date :. January 21, ...
Keywords: exome sequencing; prenatal; fetus; prenatal diagnosis exome sequencing; prenatal; fetus; prenatal diagnosis ... Exome Sequencing in Fetuses with Structural Malformations. Fiona L. Mackie 1,2,* , Keren J. Carss 3. ... Mackie, F.L.; Carss, K.J.; Hillman, S.C.; Hurles, M.E.; Kilby, M.D. Exome Sequencing in Fetuses with Structural Malformations. ... Exome Sequencing in Fetuses with Structural Malformations. Journal of Clinical Medicine. 2014; 3(3):747-762. ...
Whats the "value" of exome sequencing in children with neurodevelopmental disorders?. This is a summary of a recent commentary ... Exome sequencing (ES) is increasingly used as part of the genetics evaluation of neurodevelopmental disorders, and acute ... exome sequencing - Genomics and Precision Health Blog ...
Abstract 11571: Whole Exome Sequencing in Familial Hypobetalipoproteinemia. Hayato Tada, Masa-aki Kawashiri, Atsushi Nohara, ... Abstract 11571: Whole Exome Sequencing in Familial Hypobetalipoproteinemia. Hayato Tada, Masa-aki Kawashiri, Atsushi Nohara, ... Abstract 11571: Whole Exome Sequencing in Familial Hypobetalipoproteinemia. Hayato Tada, Masa-aki Kawashiri, Atsushi Nohara, ... Background: Whole exome sequencing (WES) has shown ~30% success in the diagnosis of Mendelian disorders. Few data exists ...
Our extensive range of QIAseq whole exome sequencing kits delivers exceptional coverage uniformity, no matter the GC ... Whole Exome Sequencing. Exceptional coverage uniformity in whole exome sequencing. Next-generation sequencing is an efficient ... QIAseq Human Exome Kits. Reduce exome sequencing costs by up to 50%, improve scalability with a single-day, automation- ... Whole exome sequencing analysis takes it a step further by focusing on the coding regions of the genome that harbor ,85% of ...
Discover how exome sequencing is a fast and affordable alternative to using whole-genome sequencing for your research, enabling ... The Ion AmpliSeq Exome RDY Kit enables a simple, fast method of exome enrichment, making it easy to use with oligo pools for ... Whole exome sequencing Most of the DNA sequence variants that lead to alterations in protein function are located in exons, ... Next-generation RNA-Seq and Exome-Seq using the Ion Proton™ Sequencer for translational oncology research ...
These results suggested that merging homogeneous duplicated exomes instead of using one of them could improve variant calling ... In large scale population-based whole-exome sequencing (WES) studies, there are some samples occasionally sequenced two or more ... Hierarchical clustering of replicated exomes of 92 subjects. The pairwise distance is based on the RPKM matrix for each exome. ... For each exome, raw reads in FASTQ format were aligned to the human reference genome (hg19) using Burrows-Wheeler Aligner (BWA ...
... offers whole-exome sequencing and analysis to patients with undiagnosed genetic diseases. ... Power of whole-exome sequencing. "That is the power of whole-exome sequencing," said Louanne Hudgins, MD, co-medical director ... Whole-exome sequencing does not look at all 3 billion base pairs of the human genome, but focuses instead on the approximately ... Stanford Medicine launches exome-sequencing program for patients. The Clinical Genomics Program, which began as a pilot program ...
... that they could identify the genetic variation behind the genetic disease Charcot-Marie-Tooth disease by sequencing the exome. ... Therefore, exomes are a good alternative.". In sequencing the whole genome and exome of the person with Charcot-Marie-Tooth, ... Gibbs said the exome sequencing was a superior approach and not a "shortcut" in determining who has a disease and which drugs ... "Exomes are a good approach until we can provide genomes in which the information is presented at much greater coverage," said ...
  • Since Jay Shendure's team at the University of Washington identified candidate genes for Freeman-Sheldon syndrome using exome sequencing in 2009, a growing stream of research papers showing how targeted capture methods can help researchers find underlying mutations for a range of Mendelian disorders has flooded the literature. (genomeweb.com)
  • Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). (wikipedia.org)
  • Exome sequencing is especially effective in the study of rare Mendelian diseases, because it is an efficient way to identify the genetic variants in all of an individual's genes. (wikipedia.org)
  • Exome sequencing is now increasingly used to complement these other tests: both to find mutations in genes already known to cause disease as well as to identify novel genes by comparing exomes from patients with similar features. (wikipedia.org)
  • [ 13 ] ) from protein-coding genes are yet not covered in exome kits, even those included in the Consensus Coding DNA Sequence database. (medscape.com)
  • Whole exome sequencing reads through the exons of most of the genes all at once. (cincinnatichildrens.org)
  • GeneReviews compares whole genome sequencing, whole exome sequencing, and the sequencing of a selection of individual genes , particularly their use in the diagnosis of genetic conditions. (medlineplus.gov)
  • Exome sequencing is a fast and affordable alternative to using whole genome sequencing for your research, allowing you to identify somatic and germline genetic variants within coding regions of genes without the additional expense and data analysis challenges associated with whole genome sequencing. (thermofisher.com)
  • Whole-exome sequencing does not look at all 3 billion base pairs of the human genome, but focuses instead on the approximately 21,000 protein-coding genes that have been found to be more causative of human disease. (stanford.edu)
  • Whereas whole-genome sequences cover all the DNA on all the chromosomes, exomes focus on the 2% or so of the genome that contains genes. (nature.com)
  • Exome sequencing aims to provide data for all protein-encoding genes, but only about three-quarters of genetic regions are profiled with enough accuracy for variants to be called confidently in a "research grade" (30×) exome. (nature.com)
  • The Exome Research Panel spans a 39 Mb target region (19,396 genes) of the human genome and covers 51 Mb of end-to-end tiled probe space. (idtdna.com)
  • To provide increased depth of coverage and enable high multiplexing of samples, the xGen Exome Research Panel targets only the coding sequences (CDS) of human coding genes in the RefSeq database. (idtdna.com)
  • Comparison of the number of genes that have regions covered in exome-specific sequencing versus genome-specific sequencing regions of the exome and the number of samples in which they occur. (sfari.org)
  • The exome is the DNA sequence of genes that are translated into protein. (eurekalert.org)
  • However, a new study to be reported to the annual conference of the European Society of Human Genetics (ESHG) today (Sunday) shows that exome sequencing, as currently performed, does not always produce high quality results when examining subsets of genes such as the 56 ACMG genes. (eurekalert.org)
  • Dr Eric Londin1, Assistant Professor in the Computational Medicine Centre, Department of Pathology, Anatomy and Cellular Biology, Thomas Jefferson University, Philadelphia, USA, will tell the conference that analysis of 44 exome datasets from four different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes. (eurekalert.org)
  • At least one gene in each exome method was missing more than 40 percent of disease-causing genetic variants, and we found that the worst-performing method missed more than 90 percent of such variants in four of the 56 genes," he says. (eurekalert.org)
  • One potential improvement would be to have clinical exome sequencing use methods designed to provide a maximum yield of all clinically relevant genes. (eurekalert.org)
  • If adequate performance cannot be obtained across the exome, then further use of targeted disease-specific panels of genes should be explored," Dr. Londin says. (eurekalert.org)
  • The test, called exome sequencing, involves determining the order of all of the genes in a person's genome. (eurekalert.org)
  • Identification of a Set of Highly Constrained Genes from Exome Sequencing Data. (ashg.org)
  • Since a mutation in a gene under evolutionary constraint may be more likely to contribute to disease, we sought to identify a set of such genes based on a large collection of exome sequence data. (ashg.org)
  • What exome sequencing allows doctors to do is to analyze more than 20,000 genes at once, with one simple blood test. (medicalxpress.com)
  • The exome consists of all the genome's "exons," which are the coding portion of genes. (medicalxpress.com)
  • These tests are exome-sequencing-based, covering over 22,000 genes, which may increase diagnostic yields (identifying the cause of a disorder), and cover Asian-specific genes that may not be included in many microarray- or panel-based gene tests. (prweb.com)
  • We sequenced 50 exomes of ethnic Tibetans, encompassing coding sequences of 92% of human genes, with an average coverage of 18× per individual. (sciencemag.org)
  • Further, whole exome sequencing is the technique for sequencing all the exome and protein-coding genes in genome. (yahoo.com)
  • Within large population studies, the researchers suggest that exome sequencing could be used to uncover genes that contribute to the risk for more common, multigenic diseases such as diabetes or cancer. (bio-medicine.org)
  • There are recent striking technological advances in our capacity to examine all of the genes in a person" says Assoc.Prof. Jamieson "and 'exome sequencing' is one of the most exciting avenues now available. (edu.au)
  • The aim of the present study was to assess the practical diagnostic value of whole-exome sequencing (WES) in patients with different phenotypes and to explore possible strategies to increase the capability of WES in identifying disease‑causing genes. (spandidos-publications.com)
  • Whole exome sequencing allows for thorough genetic analysis of candidate genes as well as novel gene discovery. (dovepress.com)
  • Use of whole-exome sequencing (WES) has recently led to the discovery of novel susceptibility genes in heritable PAH, but whether WES can also accelerate gene discovery in IPAH remains unknown. (ovid.com)
  • Exome sequencing to identify novel genes in hypertension. (harvard.edu)
  • Regeneron will cover the cost of the exome sequencing, gaining valuable insights into links between genes and disease in return. (fiercebiotech.com)
  • Exome sequencing analysis of larger, independent stillbirth cohorts would test the validity of our results and almost certainly uncover additional genes that are associated with stillbirth. (physiciansweekly.com)
  • Our results show that exome sequencing in stillbirth can identify variants of genes that are incompatible with survival in utero. (physiciansweekly.com)
  • Exome sequencing, which involves determining the order of all of the genes in a person's genome, is more efficient and less costly than the more commonly used type of genetic testing. (ucla.edu)
  • On the other hand, whole genome sequencing has been found to capture a more comprehensive view of variants in the DNA compared to whole-exome sequencing. (wikipedia.org)
  • Especially for single nucleotide variants, whole genome sequencing is more powerful and more sensitive than whole-exome sequencing in detecting potentially disease-causing mutations within the exome. (wikipedia.org)
  • Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic. (wikipedia.org)
  • Exome-wide association meta-analysis demonstrates that protein-coding variants in APOB and APOE associate with subclinical atherosclerosis. (nih.gov)
  • Exome libraries can be produced in less than 50 minutes of hands-on time, allowing researchers to rapidly sequence key exonic regions of the genome, going from DNA to variants in just 2 days. (thermofisher.com)
  • Lupski said that both the genome and exome methods found 12 variants that affect the ways cells respond to specific drugs in this patient as well as identify the novel mutations in the gene SH3TC2 that encodes a protein with a role in the way nerves in the periphery of the body are covered with a myelin sheath. (bcm.edu)
  • Even with "clinical grade" exomes, in which each DNA fragment is sampled 80 times or more, 5-15% of variants will still not be called variants. (nature.com)
  • A novel approach is developed to address the challenge of annotating with phenotypic effects those exome variants for which relevant empirical data are lacking or minimal. (mdpi.com)
  • The exome (the protein-coding region of the human genome) represents less than 2% of the genome, but contains ~85% of known disease-related variants, 1 making whole-exome sequencing a cost-effective alternative to whole-genome sequencing. (illumina.com)
  • Exome sequencing using exome enrichment can efficiently identify coding variants across a wide range of applications, including population genetics, genetic disease, and cancer studies. (illumina.com)
  • Exome sequencing detects variants in coding exons, with the capability to expand targeted content to include untranslated regions (UTRs) and microRNA for a more comprehensive view of gene regulation. (illumina.com)
  • Whole-exome sequencing of families affected by simplex autism has yielded tremendous insight into genetic variants conferring risk in coding regions of the genome. (sfari.org)
  • Comparison of whole-genome and whole-exome sequencing data suggests that a combined approach works best to identify single-nucleotide variants and indels, whereas the greatest benefit of whole-genome sequencing was in the discovery of small copy number variants that cannot be reliably detected through exome sequencing. (sfari.org)
  • The researchers examined the coverage of the exome datasets for the locations where the 17,774 disease-causing variants can occur. (eurekalert.org)
  • However, the automated clustering algorithm in an exome array has a genotype calling problem in accuracy for identifying rare and low-frequency variants. (hindawi.com)
  • Moreover, exome-based genotyping has the capacity to discover rare variants in exon regions associated with complex diseases [ 7 - 9 ]. (hindawi.com)
  • Exome enrichment methods that uniformly and specifically enrich content enable reliable identification of coding variants. (illumina.com)
  • Whole exome sequencing (WES) is proving to be a highly effective method for identifying de novo variants that cause neurologic disorders, especially those associated with abnormal brain development. (sigmaaldrich.com)
  • From the depths of more than 20,000 whole-exome sequences, researchers from the Alzheimer's Disease Sequencing Project (ADSP) hauled out two novel genetic variants that significantly associate with risk for late-onset AD: the zinc-finger protein ZNF655, a transcription factor, and AC099552.4, a long noncoding RNA thought to regulate gene expression. (alzforum.org)
  • To search for rarer variants that might have larger effects, researchers have turned to whole-genome or whole-exome sequencing. (alzforum.org)
  • Clinical exome sequencing is a test for identifying disease-causing DNA variants within the 1 percent of the genome which codes for proteins, the exons, or flanks the regions which code for proteins. (medicalxpress.com)
  • Following whole-exome sequencing, presumptive causal variants were identified in 28 patients (53 percent) and possible causal variants were identified in 4 (8 percent). (medindia.net)
  • By assuming a recessive model of inheritance and eliminating any variants found in the 60 control exomes or documented in existing databases, the investigators hit gold. (sciencemag.org)
  • Assessment of the results of exome sequencing is based on knowledge of the genetic code and allows for a more informative interpretation of genetic variants. (bio-medicine.org)
  • Using the exome strategy, like other methods of direct DNA sequencing, investigators also can detect rare variants that typically provide a stronger indication of disease susceptibility. (bio-medicine.org)
  • Consequently, it was necessary to call variants across most of the single cells to reduce the high false positive (FP) technical errors, which is equivalent to sequencing the bulk tissue en masse . (biomedcentral.com)
  • We used whole exome sequencing on a cohort of 69 patients with various forms of retinal degeneration and in whom screens for previously identified disease-causing variants had been inconclusive. (dovepress.com)
  • Human exome resequencing using commercial target capture kits has been and is being used for sequencing large numbers of individuals to search for variants associated with various human diseases. (biomedcentral.com)
  • Exome sequence data from 60,706 individuals provide sufficient observations of rare protein truncating variants (PTVs) to make genome-wide estimates of selection against heterozygous loss of gene function. (harvard.edu)
  • Furthermore, variants that were present in an in-house exome cohort performed for other disease entities were also excluded since these probably represent local SNV's. (ahajournals.org)
  • To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. (lu.se)
  • Sessions included topics such as comparative epigenomics, early exome sequencing in complex traits, large-scale identification of regulators of translation and integrated genetic and functional studies of disease-causing variants. (bioline.com)
  • Elsevier , a world-leading provider of scientific, technical and medical information products and services, announces the collaboration between the The Wellcome Trust's DECIPHER (DatabasE of GenomiC variants and Phenotype in Humans using Ensemble Resources) and its European Journal of Medical Genetics   (EJMG) to share exome data by publishing a new article type: the Exome Report. (comunicati.net)
  • Elsevier's European Journal of Medical Genetics will facilitate advancing the database, and also the knowledgebase of genomic variants, by requiring that authors publishing their work in the journal directly include their exome data in DECIPHER. (comunicati.net)
  • The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. (wikipedia.org)
  • The human exome consists of roughly 233,785 exons, about 80% of which are less than 200 base pairs in length, constituting a total of about 1.1% of the total genome, or about 30 megabases of DNA. (wikipedia.org)
  • Different cell types only transcribe portions of the exome, and only the coding regions of the exons are eventually translated into proteins. (wikipedia.org)
  • One must also keep in mind that non-coding regions can be involved in the regulation of the exons that make up the exome, and so whole-exome sequencing may not be complete in showing all the sequences at play in forming the exome. (wikipedia.org)
  • They developed the Sequence Capture Human Exome 2.1M Array to capture ~180,000 coding exons. (wikipedia.org)
  • The exome includes only the exons (the parts used to make proteins). (cincinnatichildrens.org)
  • Together, all the exons in a genome are known as the exome, and the method of sequencing them is known as whole exome sequencing. (medlineplus.gov)
  • Because most known mutations that cause disease occur in exons, whole exome sequencing is thought to be an efficient method to identify possible disease-causing mutations. (medlineplus.gov)
  • However, researchers have found that DNA variations outside the exons can affect gene activity and protein production and lead to genetic disorders--variations that whole exome sequencing would miss. (medlineplus.gov)
  • A ) Coverage of exons 1 and 2 of RB1 shows that the xGen Exome Research Panel is the only panel to efficiently capture first exons. (idtdna.com)
  • Whole-exome sequencing is a complex laboratory process that determines the entire unique sequence of an organism's exome (the collection of exons, which are relatively small lengths of a whole genome and contain instructions for the body to build proteins). (medindia.net)
  • This technique includes selection of the subset of the DNA that encodes proteins or exons which is followed by sequencing of the exome DNA using high throughput DNA sequencing methods. (yahoo.com)
  • They will process customer gDNA samples for genomic enrichment, using 2.1 million optimized DNA probes from SeqCap EZ Exome to capture all human coding exons, and sequence the enriched samples using short-read, paired-end sequencing. (fiercebiotech.com)
  • The complete set of exons referred to as the "exome" makes up only one percent of the human genome. (bio-medicine.org)
  • Exome Sequencing" allows us to look at most of the key bases in just one test, rather than having to sequence each of the exons individually with 230,000 separate tests! (edu.au)
  • An exome is the collection of exons, the sequences within the primary mRNA transcripts of an organism that are eventually used for making proteins. (asmblog.org)
  • Exome sequencing, a child of next-generation sequen-cing, is usually done in two steps: capturing the exons and sequencing them. (asmblog.org)
  • The release of commercial capture reagents from both NimbleGen and Agilent that target human exons for resequencing (exome sequencing) has greatly accelerated the utilization of this strategy. (biomedcentral.com)
  • While exome sequencing, with a requirement of 20-fold less raw sequence data compared to whole genome sequencing [ 5 ], is attractive, it was clear that based on the number of regions targeted by the initial commercial reagents compared to the number of annotated exons in the human genome that not all of the coding regions of the genome were targeted. (biomedcentral.com)
  • There are several commercial kits available for exome sequencing in a number of species and, owing to the highly conserved nature of exons, many of these can be applied to other closely related species. (g3journal.org)
  • Whole exome sequencing is far less expensive than complete genome sequencing because the exons make up only about one percent of the entire human genome. (survivingmesothelioma.com)
  • Exome sequencing has proven to be an efficient method to determine the genetic basis of more than two dozen Mendelian or single gene disorders. (wikipedia.org)
  • While many more genetic changes can be identified with whole exome and whole genome sequencing than with select gene sequencing, the significance of much of this information is unknown. (medlineplus.gov)
  • These results demonstrate the clinical utility of whole-exome sequencing and have implications for disease gene discovery and clinical diagnosis. (pnas.org)
  • Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. (nih.gov)
  • Exome sequencing links gene mutation in angiopoietin-like protein 3 with low-density lipoprotein cholesterol. (nih.gov)
  • The DRAGEN CS (Exome) includes a host of pipelines including our DRAGEN Germline V2 Pipeline, DRAGEN Somatic V2 Pipeline (T and T/N), DRAGEN Virtual Long Read Detection (VLRD), DRAGEN RNA Gene Fusion, DRAGEN Joint Genotyping Pipeline, and GATK Best Practices. (amazon.com)
  • New gene mutations are continually being identified: In Tessa's case, for instance, whole-exome sequencing initially came back normal. (stanford.edu)
  • B ) The xGen Exome Research Panel provides the most complete end-to-end gene coverage using 100M reads. (idtdna.com)
  • Rather than testing one sequential gene after another, exome sequencing saves time, money and effort," said Dr. Julian Martinez-Agosto, a pediatrician and researcher at the Resnick Neuropsychiatric Hospital at UCLA. (medicalxpress.com)
  • In patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes (enzymes that are involved in basic energy production), use of exome sequencing improved the ability to identify the underlying gene mutations. (medindia.net)
  • Two clinical scenarios are presented in the health economic evaluation: one where the exome virtual gene panel test is offered in addition to standard genetics tests and another in which it is offered as a 'near first-line' test (e.g. after an array CGH test in a case of developmental delay). (phgfoundation.org)
  • Sequencing exomes identifies a new gene variant causing familial combined hypolipidemia. (sciencemag.org)
  • In addition, the study included four unrelated people with Freeman-Sheldon syndrome, a rare inherited disorder caused by mutations in the MYH3 gene, to see if exome sequencing had the power to detect the MYH3 mutations known to exist in their DNA. (bio-medicine.org)
  • The findings demonstrate that sequencing the exomes of a small number of unrelated individuals with a disorder that is due to a single gene can serve as a genome-wide scan for the causative gene. (bio-medicine.org)
  • Microcephaly investigations and genetic panels were negative, but we found a new D317V homozygous mutation in TELOE-2 interacting protein 2 ( TTI2 ) gene by whole-exome sequencing. (springer.com)
  • Here, we report a child with primary microcephaly carrying D317V Homozygous mutation in TELO2-interacting protein 2 ( TTI2 ) gene, identified by whole-exome sequencing (WES). (springer.com)
  • Exome sequencing for disease gene discovery in humans is well established and has been used successfully to identify mutations that are causative of complex and rare diseases. (g3journal.org)
  • Using new high-throughput sequencing technologies, whole genomes, whole exomes or candidate-gene panels (targeted gene sequencing) can now be cost-effectively sequenced for endocrine patients. (ukessays.com)
  • An exome scan for recessive effects reveals FGF6 as a hemochromatosis susceptibility gene. (bloodjournal.org)
  • Whole exome sequencing (WES) is a powerful alternative for the identification of the causal gene, however variant interpretation remains challenging. (ahajournals.org)
  • As a director in a clinical diagnostics laboratory, he is responsible for the interpretation and reporting of large gene panel tests - with a special focus in cardiomyopathy - and the development of next-generation sequencing tests, including clinical genome/exome sequencing. (labroots.com)
  • Careful comparison of the exome sequencing data allowed the association of driver gene mutation prevalence with tumor progression. (bioconferencelive.com)
  • The first target enrichment strategy to be applied to whole exome sequencing was the array-based hybrid capture method in 2007, but in-solution capture has gained popularity in recent years. (wikipedia.org)
  • The Ion AmpliSeq Exome RDY Kit enables a simple, fast method of exome enrichment, making it easy to use with oligo pools for ultrahigh multiplex PCR exome enrichment on a dried-down plate. (thermofisher.com)
  • Among currently available exome enrichment platforms, some platforms such as Illumina TruSeq were also designed to capture a portion of noncoding regions, including untranslated regions (UTRs) and intronic regions [ 17 ]. (hindawi.com)
  • Library preparation and exome enrichment are critical to the success of any exome sequencing experiment. (illumina.com)
  • Initial strategies for exome enrichment utilized a hybridization-based capture approach. (sigmaaldrich.com)
  • They will provide target-enrichment services using NimbleGen SeqCap EZ Human Exome coupled with next-generation sequencing services for genetic research. (fiercebiotech.com)
  • SANTA CLARA, Calif. -- Agilent Technologies Inc. (NYSE: A) today introduced the SureSelect Focused Exome , a target enrichment solution that enables deep coverage of only those target regions that have been associated with disease. (environmental-expert.com)
  • The SureSelect Focused Exome can be paired with existing SureSelect target enrichment protocols with greatly reduced hybridization times, as little as 90 minutes, to provide sequencing-ready libraries in one day. (environmental-expert.com)
  • The gDNA samples then underwent target enrichment with the xGen Exome Research Panel and were sequenced with Illumina whole exome sequencing. (idtdna.com)
  • In sequencing the whole genome and exome of the person with Charcot-Marie-Tooth, Lupski, colleague Dr. Richard Gibbs, director of the Baylor College of Medicine Human Genome Sequencing Center, who holds the Wofford Cain Chair in Molecular and Human Genetics, and others used a variety of technologies. (bcm.edu)
  • We acknowledge the researchers at Weill Cornell Medicine for sharing the genome and exome data sets without which this analysis was not possible. (springer.com)
  • The "Global Whole Genome and Exome Sequencing Market: Focus on Product, Workflow, Application, End User, Country Data (16 Countries), and Competitive Landscape - Analysis and Forecast, 2019-2029" report has been added to ResearchAndMarkets.com's offering. (yahoo.com)
  • According to this market intelligence report the global whole genome and exome sequencing market was valued at $497.1 million in 2018 and is anticipated to grow over $7,303.0 million by 2029. (yahoo.com)
  • The global whole genome and exome sequencing market are expected to grow at double-digit compound annual growth rate in the forecast period 2019-2029, aided primarily by the impressive growth in the underlying services market. (yahoo.com)
  • BGI, applying its deep genome and exome sequencing expertise, has enriched Complete Genomics' platform further to now enable robust and rapid human whole exome sequencing services that leverage the inherent strengths of that platform. (bio-medicine.org)
  • Well also detail our experiences offering WGES in clinical care, including our support of the MedSeq and BabySeq projects that are studying the return of genome and exome sequencing results in adults and newborns, respectively, in both healthy individuals and individuals with disease. (labroots.com)
  • Figure 1: Mitochondrial genomes assembled from whole-exome sequence data generated from peripheral blood of a human individual (SRA study SRP007499) using Illumina TruSeq, Agilent SureSelect and NimbleGen (Roche) SeqCap EZ-Exome platforms at a minimum one-fold-per-base coverage. (nature.com)
  • A new version of the DRAGEN Complete Suite is available under a standalone app for BOTH genomes and exomes. (amazon.com)
  • Exomes are a good approach until we can provide genomes in which the information is presented at much greater coverage," said Dr. Claudia Gonzaga-Jauregui, a postdoctoral fellow in the laboratory of Dr. James Lupski, vice chair of molecular and human genetics at BCM, who holds the Cullen Foundation Endowed Chair in Molecular Genetics. (bcm.edu)
  • Consequently, the term exome is used mainly in connection of analyzing eukaryotic genomes. (asmblog.org)
  • In keeping with its unique mandate, CLOCKSS is proud to offer continuing and public access to volumes 1-5 of the Journal of Genomes and Exomes . (clockss.org)
  • 0.1% in publically available exome databases (1000 Genomes and ESP) were excluded. (ahajournals.org)
  • The introns and other non-coding sequences of DNA are not part of the exome. (cincinnatichildrens.org)
  • Continued study of exome and genome sequences can help determine whether new genetic variations are associated with health conditions, which will aid disease diagnosis in the future. (medlineplus.gov)
  • The human exome (comprising all protein-coding sequences of the genome) represents just 1% of the 6 billion nucleotides in the diploid human genome. (sciencemag.org)
  • In an effort to identify the causative genetic mutations in other FCH patients, the investigators sequenced the entire exomes of two siblings with FCH and compared these sequences to the exomes of 60 other individuals. (sciencemag.org)
  • Comparison of the exome sequences to the publicly available human genome sequence highlighted the sensitivity of this technique for detecting genetic variations, both common and rare. (bio-medicine.org)
  • Each exome kit performed well at capturing the targets they were designed to capture, which mainly corresponds to the consensus coding sequences (CCDS) annotations of the human genome. (biomedcentral.com)
  • A University of Colorado Cancer study published today in the Journal of the American Medical Informatics Association describes a new tool that interprets the raw data of whole exome tumor sequencing and then matches the cancer's unique genetics to FDA-approved targeted treatments. (news-medical.net)
  • SAN CARLOS, Calif., April 10, 2019 /PRNewswire/ -- Natera, Inc. NTRA, -1.59% Natera, a leader in cell-free DNA testing, today announced plans to commercialize a research-use-only (RUO) service for whole exome sequencing (WES) of circulating tumor DNA, using plasma samples from patients with cancer. (marketwatch.com)
  • With the combined service, researchers can first use Signatera to monitor patients for the presence or absence of ctDNA, and for positive patients they can reflex to a plasma exome to characterize tumor evolution using the same exact DNA library sample. (marketwatch.com)
  • Ideal for exome sequencing of tumor samples, normal/tumor pairs, and primary/metastatic tumor pairs, this easy-to-use sequencing kit enables consistent and reliable research results across multiple tissue sources. (thermofisher.com)
  • Sequencing the cancer exome provides useful information about the coding mutations that contribute to tumor progression. (illumina.com)
  • Exome sequencing allows cancer researchers to assess only coding regions, as they are the most likely to contain mutations that affect tumor progression. (illumina.com)
  • Because it offers an accessible combination of turnaround time and price, exome sequencing is the method of choice for many tumor-normal comparisons. (illumina.com)
  • We aimed to identify the disease-causing mutations in the triple-negative cases of ET and PMF by applying whole-exome sequencing (WES) on paired tumor and control samples from 8 patients. (bloodjournal.org)
  • We performed single cell RNA and exome sequencing of treatment resistant breast tumor derived xenografts (PDX) to identify population structure. (bioconferencelive.com)
  • To our knowledge, whole-exome (or genome) sequencing has not previously been used to make a genetic diagnosis. (pnas.org)
  • This review outlines the current tests used in prenatal diagnosis, focusing particularly on "new technologies" such as exome sequencing. (mdpi.com)
  • The potential ethical dilemmas surrounding exome sequencing are also considered, and the future of prenatal genetic diagnosis is discussed. (mdpi.com)
  • Whole exome sequencing (WES) has shown ~30% success in the diagnosis of Mendelian disorders. (ahajournals.org)
  • The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. (nih.gov)
  • Whole-exome sequencing provided a diagnosis in 22 of 92 patients (24%), including 9 probands with CKD of unknown cause and encompassing 13 distinct genetic disorders. (nih.gov)
  • A central question, the researchers say, is not how often a clinical diagnosis can be made using exome sequencing, but how often it is missed, and the study shows clearly that there is a high false-negative rate using existing sequencing kits. (eurekalert.org)
  • Exome sequencing is more efficient and less costly than the type of genetic testing that has been more commonly used, Fogel said -- and a proper diagnosis can end what for many patients is an agonizing journey just to find a name for their conditions. (eurekalert.org)
  • After undergoing batteries of tests without a conclusive diagnosis, Calvin Lapidus underwent exome sequencing at UCLA, which enabled doctors to identify his rare condition, known as Pitt-Hopkins syndrome. (medicalxpress.com)
  • Whole exome sequencing is increasingly adopted by clinicians in the U.S. to quickly obtain a diagnosis for these "unresolved" cases. (prweb.com)
  • UCLA Clinical Genomics Center is one of the first U.S. medical institutions offering clinical-grade whole exome sequencing for diagnosis of pediatric and adult genetic disorders. (prweb.com)
  • The relationship between UCLA Clinical Genomics Center and Rainbow Genomics enables many middle-class families to access exceptionally-high-quality exome sequencing genetic tests that may finally provide a diagnosis, something that these families have been seeking for years. (prweb.com)
  • Rainbow Genomics specializes in providing whole exome sequencing and pharmacogenomic tests to enable physicians to use genomic information for diagnosis, treatment, and disease prevention. (prweb.com)
  • Exome Sequencing Can Improve Diagnosis and Alter Patient Management. (natureasia.com)
  • Here, we made a definitive SIOD diagnosis of a 5-year-old girl with an extremely mild phenotype by applying whole exome sequencing (WES). (frontiersin.org)
  • Be aware that exome sequencing in a study of 246 stillbirths identified a molecular diagnosis in 8.5% of cases. (physiciansweekly.com)
  • The American College of Medical Genetics and Genomics has laid out their policies regarding whole exome and whole genome sequencing , including when these methods should be used, what results may arise, and what the results might indicate. (medlineplus.gov)
  • The Mount Sinai School of Medicine Genomics Core Facility describes the techniques used in whole exome sequencing . (medlineplus.gov)
  • The Clinical Genomics Program, which began as a pilot program a few years ago, offers whole-exome sequencing and analysis to patients with undiagnosed genetic diseases. (stanford.edu)
  • That is the power of whole-exome sequencing," said Louanne Hudgins , MD, co-medical director of the Clinical Genomics Program, which will launch this spring at Stanford Health Care and Stanford Children's Health. (stanford.edu)
  • The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients of clinically actionable incidental genetic findings in the course of clinical exome testing. (eurekalert.org)
  • While it is difficult to argue against the benefits of taking preventive action, the reality of exome sequencing is that "it generates so much data but so little of it can be interpreted or can be helpful," said Yann Joly , research director at the Center of Genomics and Policy at McGill University in Montreal. (the-scientist.com)
  • This process is coupled with Rainbow Genomics' whole exome sequencing performed at its CAP-accredited laboratory. (prweb.com)
  • Personalized genomics may be moving into a new era with whole-exome and whole-genome sequencing becoming affordable and available to consumers. (goldenhelix.com)
  • The SureSelect Focused Exome completes Agilent's constitutional disease portfolio and meets the specialized needs of all types of clinical researchers,' said Alessandro Borsatti, senior director of Marketing for Agilent's Diagnostics and Genomics group. (environmental-expert.com)
  • BGI Tech launches human whole exome sequencing service on complete genomics' advance. (bio-medicine.org)
  • Whole exome sequencing on Complete Genomics platform available beginn. (bio-medicine.org)
  • With the launch of whole exome sequencing on Complete Genomics platfo. (bio-medicine.org)
  • Cambridge, MA and Shenzhen, China July 22, 2014 BGI Tech Solutions Co., LTD, (BGI Tech), a subsidiary of BGI, the world's largest genomics organization, announced today the global launch of a new human whole exome sequencing service based on Complete Genomics' industry-leading platform. (bio-medicine.org)
  • Whole exome sequencing on Complete Genomics platform, available beginning today at only $599 per sample, guarantees 100X average sequencing depth for target regions. (bio-medicine.org)
  • With the launch of whole exome sequencing on Complete Genomics platform, BGI Tech is addressing the market need for superior sequencing solutions at affordable pricing," stated Yingrui Li, CEO of BGI Tech, "We are pleased to make this robust and extremely accurate platform available to our more than 30,000 customers worldwide and to the broader research community globally. (bio-medicine.org)
  • Our concern is that when a clinical exome analysis does not report a disease-causing genetic variant, it may be rather that the location of that variant has not been analysed rather than the patient's DNA being free of a disease-causing variant," says Dr Londin. (eurekalert.org)
  • Current consensus and regulatory guidelines do not prescribe a minimum data requirement for clinical exome tests. (eurekalert.org)
  • That this question remains unanswered after nearly a decade of experience with clinical exome sequencing reflects the inherent difficulty in designing and executing a study to provide meaningful data. (physiciansweekly.com)
  • As part of this announcement, Ambry is launching Clinical Diagnostic Exome™ sequencing, which marks the first time NextGen sequencing of the exome has been made available on a clinical basis along with clinical interpretation and classification of variant data. (bio-medicine.org)
  • Ambry, with the support of its expert bioinformatics team, is making Clinical Diagnostic Exome™ possible by developing a robust data analysis pipeline for Mendelian disease discovery. (bio-medicine.org)
  • Today we are launching the Clinical Diagnostic Exome™ as a clinical service complete with interpretation, giving affected patients the equivalent of their own human genome project and clinicians the possibility of diagnosing complicated medical conditions. (bio-medicine.org)
  • The Clinical Diagnostic Exome™ provides sequencing of the most important functional regions of the genome that harbor the majority of known disease causing mutations. (bio-medicine.org)
  • One of the difficulties of diagnostic exome sequencing is that the number of single patients with a clearly defined phenotype in which a likely pathogenic genetic variant is identified is small. (comunicati.net)
  • The sample to sequencing workflow reduces your sequencing costs by up to 50% and is at least 33% faster than other exome workflows. (qiagen.com)
  • Exome sequencing workflow. (asmblog.org)
  • The solution-based exome capture kits manufactured by both companies are of particular importance because they are more easily adaptable to a high-throughput workflow and, further, do not require an investment in array-processing equipment or careful training of personnel on array handling. (biomedcentral.com)
  • 1 , 2 In a typical exome sequencing workflow, libraries are constructed from purified DNA, enriched for the exon regions and then sequenced. (dovepress.com)
  • HealthDay News - About one-quarter of adults with chronic kidney disease (CKD) of unknown cause or familial nephropathy or hypertension have diagnostic mutations, which can be identified with whole-exome sequencing (WES), according to a study in the Annals of Internal Medicine . (renalandurologynews.com)
  • Though composing a very small fraction of the genome, mutations in the exome are thought to harbor 85% of mutations that have a large effect on disease. (wikipedia.org)
  • Yet, surprisingly, more than 80% of genetic diseases showing Mendelian inheritance stem from mutations in the exome. (sciencemag.org)
  • With the goal of finding methods to best detect harmful mutations and successfully diagnose patients, researchers are looking to the exome for clues to aid in this process. (wikipedia.org)
  • In addition to being used in the clinic, whole exome and whole genome sequencing are valuable methods for researchers. (medlineplus.gov)
  • Methods of enriching targeted genomic segments by hybridization have been used for 30 years ( 10 ), and have recently been extended to the whole exome scale ( 11 ), although their utility has been limited by the large amounts of genomic DNA required and by coupling to sequence platforms of modest throughput. (pnas.org)
  • This finding is consistent with previous studies showing that exome methods do not have a linear relationship between sequence-generated and nucleotide2 coverage. (eurekalert.org)
  • proposed a list of best practices for genotype calling for exome chip methods following a study with 62,266 participants from seven genotyping centers included in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium [ 11 ]. (hindawi.com)
  • Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing. (sigmaaldrich.com)
  • We report the adoption of whole-exome capture on single arrays on the Roche/NimbleGen platform to the Illumina sequencing platform. (pnas.org)
  • Microfluidic whole genome amplification followed by whole exome capture of single cells, identified driver mutations as well as a number of sub-clonal mutations that are being investigated further. (bioconferencelive.com)
  • 25,000 exomes analyzed simultaneously (see abstract by MacArthur et al). (ashg.org)
  • Exome sequencing also produces a more manageable data set compared to whole-genome approaches. (illumina.com)
  • The plasma exome capability adds an important component to our suite of services for cancer researchers,' said Eric Lindquist, Natera Vice President, Oncology Business Development. (marketwatch.com)
  • When a smaller part of the genome - the exome that contains the DNA record for the protein coding part of the genome - can be read at greater "coverage" than a whole genome, said researchers from Baylor College of Medicine. (bcm.edu)
  • This addition will provide more researchers with access to the innovative NimbleGen SeqCap EZ Human Exome technology. (fiercebiotech.com)
  • NIH-funded researchers sequence exomes of. (bio-medicine.org)
  • To demonstrate the utility of their approach, researchers focused on the exomes of eight people (four Yoruba, two East Asians, two European-Americans), whose DNA had previously been characterized by the International HapMap Project. (bio-medicine.org)
  • The SureSelect Focused Exome enables clinical researchers to confidently make variant calls in regions of significance by targeting regions defined in HGMD, OMIM and ClinVar databases. (environmental-expert.com)
  • Whether they are studying rare disorders that necessitate comprehensive interrogation of the exome, disease-related regions, or Mendelian disorders with known etiology that only require analysis of very specific targets, researchers now have an ideal solution compatible with any type of exome sequencing platform. (environmental-expert.com)
  • Although there was no single anomaly within the patient's exome that could explain his mesothelioma and lung cancers, the researchers did point out that the man's smoking habit probably played a role. (survivingmesothelioma.com)
  • Using exome sequencing in a cohort of 246 stillborn neonates, researchers identified a genetic variant that may be causal in a subset of stillbirths. (physiciansweekly.com)
  • The study also found that exome datasets generated from low amounts of sequence data (fewer than six gigabases) performed much worse than datasets that were generated from higher amounts of sequence data (more than ten gigabases). (eurekalert.org)
  • The quality of exome sequence data can be improved by various me-thods. (asmblog.org)
  • Ambry Genetics' commitment to high quality genomic and next-generation sequencing services is an ideal fit with our SeqCap EZ Exome technology, and we look forward to this partnership and the innovation and value it will provide to the research market" said Dr. Frank Pitzer, CEO of Roche NimbleGen, Inc. (fiercebiotech.com)
  • We assessed the application of exome sequencing for diagnostics in complex I deficiency, a disease with vast genetic heterogeneity. (uni-muenchen.de)
  • The successful application of exome sequencing to crops has yielded results that may be used in selective breeding to improve production in these species, and there is potential for exome sequencing to provide similar advances in livestock species that have not yet been realized. (g3journal.org)
  • The DRAGEN Complete Suite (Exome) enables ultra-rapid analysis of Next Generation Sequencing (NGS) data for small data sets, such as whole exomes and targeted panels. (amazon.com)
  • In the present study, we systematically evaluated SNP detection performance of three strategies to utilize the duplicated exome data of 92 subjects, only using the data with higher depth, only using the data with lower depth, and using the merged data from technical replicates. (hindawi.com)
  • Coverage profile of xGen Exome Research Panel most closely resembles whole genome data. (idtdna.com)
  • Although the exome datasets are comparable in quality to other published clinical and research exome data sets, the coverage of the disease-causing locations was very heterogeneous and often poor. (eurekalert.org)
  • Illumina offers several library preparation, sequencing, and data analysis options for cancer exome sequencing. (illumina.com)
  • The company provides the raw data, plus "data visualization tools that allow you to explore your exome in comparison to ClinVar"-a National Institutes of Health database of clinically significant genetic variations. (the-scientist.com)
  • The availability of whole exome and genome data sets for a highly consanguineous Arab population from Qatar motivated us to explore the incidental findings in this population-scale data. (springer.com)
  • It's easy to generate exome data for patients, but the interpretation is not so straightforward," he adds. (natureasia.com)
  • To address this problem, we developed a method called SNES that combines flow-sorting of single G1/0 or G2/M nuclei, time-limited multiple-displacement-amplification, exome capture, and next-generation sequencing to generate high coverage (96%) data from single human cells. (biomedcentral.com)
  • SNES combines flow-sorting, time-limited isothermal multiple-displacement amplification (MDA), exome capture, and next-generation sequencing (NGS) to generate high coverage (96%) data for the accurate detection of point mutations and indels in single mammalian cells. (biomedcentral.com)
  • However, significant resources have been spent on the original exome capture kits (both array and solution) and a vast amount of data has been generated from the original kits. (biomedcentral.com)
  • We therefore analyzed two version 1 exome capture products and evaluated their performance and also compared them against the scope of whole genome sequencing to provide the community with the information necessary to evaluate their own and others' published data. (biomedcentral.com)
  • The data set produced from exome sequencing is many times smaller than that of whole genome sequencing, making it more easily manageable and the analysis less complex. (g3journal.org)
  • Now Regeneron ($REGN) has given the U.S. a boost by partnering with a healthcare network to tie EHRs to exome sequencing data. (fiercebiotech.com)
  • These articles serve as a venue to present abnormal exome sequencing from a single patient with associated clinical data. (comunicati.net)
  • Publishing our Exome Reports with a direct link to DECIPHER not only focusses reporting on these limited single patients, but also allows for linking back and forth between context and associated clinical data to allow for best interpretation and opportunities for further development of research in the field. (comunicati.net)
  • Because the exome represents less than 2% of the genome, cancer exome sequencing is a cost-effective alternative to whole-genome sequencing. (illumina.com)
  • Depending on experimental needs, the content for cancer exome sequencing can also be expanded to untranslated regions and miRNA binding sites. (illumina.com)
  • For cancer exome sequencing, the ability to enrich limited DNA samples is especially important. (illumina.com)
  • Though many techniques have been described for targeted capture, only a few of these have been extended to capture entire exomes. (wikipedia.org)
  • A team from Baylor College of Medicine led by Prof. James Lupski and Prof. Richard Gibbs compared several different exome and whole genome sequencing technologies on DNA from the same person with CMT. (medindia.net)
  • A comparison of coverage depths of different exome panels to coverage depth from whole genome sequencing (WGS) of a matched library shows that the xGen Exome Research Panel provides the closest match to WGS. (idtdna.com)
  • Sequencing an individual's exome instead of their entire genome has been proposed to be a more cost-effective and efficient way to diagnose rare genetic disorders. (wikipedia.org)
  • 3) Can a healthy individual's exome provide additional risk information over standard genotype-array-based risk prediction? (goldenhelix.com)
  • Overall, whole-exome sequencing has allowed healthcare providers to diagnose 30-50% of patients who were thought to have rare Mendelian disorders. (wikipedia.org)
  • The strength of selection can discriminate the severity, age of onset, and mode of inheritance in Mendelian exome sequencing cases. (harvard.edu)
  • Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute to the understanding of rare and common human diseases. (pnas.org)
  • We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. (nih.gov)
  • By specifically targeting exon regions, whole exome sequencing is a simple and efficient approach to identify rare mutations and help discover new biomarkers. (thermofisher.com)
  • They found that they could reliably identify that genetic variation behind this disease by sequencing the coding regions alone - the exome - as well as resolve previous ambiguities. (bcm.edu)
  • And those 'low-coverage' regions vary with each exome. (nature.com)
  • Here we use whole-exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs. (broadinstitute.org)
  • Agilent SureSelect animal exomes are predefined designs targeting the coding regions providing the greatest sequencing efficiency. (agilent.com)
  • Exome sequencing is invaluable for sequencing only the coding regions of the human genome. (idtdna.com)
  • Advancements in NGS platforms and bioinformatics pipelines have allowed high-throughput, cost-effective, and efficient coverage of all coding regions of the genome, making whole-exome sequencing (WES) highly feasible in a clinical setting. (springer.com)
  • However, other databases, such as the Reference Sequence collection (RefSeq), define the exome more broadly, and so not surprisingly, the exome kits did not capture these additional regions. (biomedcentral.com)
  • Whole exome sequencing (WES) uses hybridization capture to enrich genomic samples for coding regions before performing next generation sequencing experiments. (idtdna.com)
  • Our extensive range of QIAseq whole exome sequencing kits delivers exceptional coverage uniformity, no matter the GC composition of your target. (qiagen.com)
  • With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. (labroots.com)
  • A meta-analysis of exome-wide association studies was performed across cohorts for CAC and carotid intima-media thickness. (nih.gov)
  • We developed an approach that combines whole-exome and transcriptome sequencing analysis with mass spectrometry to identify neo-epitopes in two widely used murine tumour models. (nih.gov)
  • Being the leading service provider for NGS solutions, scientists can profit from our thorough experience in exome analysis while receiving accurate results in only 7 days. (mynewsdesk.com)
  • Essential requirements for the competence of analysis and calibration laboratories such as DIN EN ISO/IEC 17025 and DIN EN ISO 9001 by the national accreditation body for the Federal Republic of Germany (DAkkS) have been fulfilled by GATC Biotech's NGS laboratories. (mynewsdesk.com)
  • The subjects recruited for exome chip design listed in a web site, Exome Chip Design-Genome Analysis Wiki ( http://genome.sph.umich.edu/wiki/Exome_Chip_Design ), were also mainly comprised of European ancestry, but a small fraction of Asians including 327 Chinese individuals. (hindawi.com)
  • A collaboration between King's Health Partners and PHG Foundation has been the undertaking a health economic analysis into the cost effectiveness of using exome sequencing as a routine clinical test. (phgfoundation.org)
  • By acquiring 23andMe exomes on his family, Gabe puts himself in the position of a bioinformatically inclined consumer, but non-clinician, to approach this question with his own analysis. (goldenhelix.com)
  • Paired exome analysis of Barrett's esophagus and adenocarcinoma. (harvard.edu)
  • These results suggested that merging homogeneous duplicated exomes instead of using one of them could improve variant calling accuracy. (hindawi.com)
  • With a combination of standardised workflows and highest quality standards, InView TM 1-Week Exome Diagnostic is an overall solution for fast and reliable variant detection. (mynewsdesk.com)
  • The result is that when a causative variant cannot be identified it does not necessarily imply that the variant is not present, rather that there may be a technical issue with the exome technology used. (eurekalert.org)
  • We evaluated two hybridization capture-based and two amplicon-based whole-exome sequencing approaches, utilizing both Illumina and Ion Torrent sequencers, comparing on-target alignment, uniformity, and variant calling. (sigmaaldrich.com)
  • This study illustrates some differences between whole-exome sequencing approaches, highlights the need for selecting appropriate variant calling based on capture method, and will aid laboratories in selecting their preferred approach. (sigmaaldrich.com)
  • Citation summary: Learn how investigators used the xGen Exome Research Panel to identify a rare and damaging de novo germline MYH9 variant associated with a congenital hemangioma. (idtdna.com)
  • citation needed] It has been suggested that whole-exome sequencing in clinical settings has many unexplored advantages. (wikipedia.org)
  • By the end of 2019, Regeneron plans to sequence the exomes of all 500,000 people within the UK Biobank resource, all with associated health records, creating an unprecedented resource linking human genetic variations to human biology and disease. (news-medical.net)
  • TUESDAY, Jan. 22, 2019 -- Whole-exome sequencing (WES) can identify a genetic cause for almost one-third of pediatric kidney transplant recipients, according to a study published online Jan. 17 in the Journal of the American Society of Nephrology . (drugs.com)
  • Whole genome sequencing reads all of an individual's DNA, whereas exome sequencing captures only the parts of the DNA which code for proteins. (medindia.net)
  • Only after comparing it with her brother's and her parents' exomes was the mutation discovered. (stanford.edu)
  • It was carried out as part of The Exome Project, a program jointly managed by the NHLBI and the NHGRI that was established to develop, validate, and begin to apply a cost-effective, high-throughput approach for exome sequencing that can be deployed in large, well-phenotyped human populations. (bio-medicine.org)
  • Exome sequencing only analyses the 1% of the human genome that encodes for protein, and is therefore faster and more cost effective than whole genome sequencing. (natureasia.com)
  • To gain a more thorough understanding of the strengths and weaknesses of an exome sequencing approach, comparative analyses were done between two commercial capture reagents and between exome capture and high coverage whole genome sequencing. (biomedcentral.com)
  • of Newcastle University, Newcastle upon Tyne, U.K., and colleagues studied whether a whole-exome sequencing approach could help define the molecular basis of mitochondrial disease. (medindia.net)
  • Prof. Richard Gibbs commented, "The higher coverage afforded by focusing on the exome at approximately 120x for clinical exomes allows greater precision of exome sequencing making this a superior approach, rather than a shortcut, to find which people might respond to a particular therapy or to define who has a specific disease. (medindia.net)
  • In addition to conducting the initial sequencing, every year specialists in the program will reanalyze results from patients whose whole-exome sequencing did not uncover a genetic cause for their disease. (stanford.edu)
  • Gibbs said the exome sequencing was a superior approach and not a "shortcut" in determining who has a disease and which drugs might work. (bcm.edu)
  • Whole-genome or -exome sequencing has traditionally been reserved for patients with a symptomatic disease. (the-scientist.com)
  • So if a person's exome sequence reveals a high risk of, say, Alzheimer's disease, which may require long-term care, the individual should be aware of the potential risks, she said. (the-scientist.com)
  • Accordingly, genome-wide sequencing of the human exome represents a potentially powerful way to detect new disease-causing mutations. (sciencemag.org)
  • There is no doubt that complete exome sequencing in search of disease-causing mutations has taken center stage. (sciencemag.org)
  • The highly optimized design, 3.5 times smaller than the full exome, enables greater flexibility in sample throughput, providing a cost-effective means of analyzing disease-associated targets. (environmental-expert.com)
  • Whole-exome sequencing (WES) currently allows the identification of the genetic basis of disease for 25%-40% of patients. (dovepress.com)
  • Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. (nih.gov)
  • Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. (illumina.com)
  • To address this problem, we developed a new approach called single nucleus exome sequencing (SNES) that builds upon our previous method. (biomedcentral.com)
  • As whole exome sequencing (WES) and whole genome sequencing (WGS) technologies are increasingly used in clinical practice, there is a pressing need to understand the true costs of these technologies as well as their incremental cost-effectiveness compared to standard approaches to genetic testing. (cdc.gov)
  • Whole-exome sequencing has been a recent technologies that has led to the discovery of various genetic disorders and increased the rate of diagnoses of patients with rare genetic disorders. (wikipedia.org)
  • The fully-integrated capabilities deliver whole exome sequencing tests covering cardio, adult and pediatric genetic disorders. (prweb.com)
  • The xGen Exome Research Panel v1.0 consists of 429,826 individually synthesized, and quality controlled xGen Lockdown ® Probes. (idtdna.com)
  • The xGen Exome Research Panel consists of 5′ biotin-modified oligonucleotide probes that are individually synthesized and individually analyzed by electrospray ionization mass spectrometry (ESI-MS) and OD measurement. (idtdna.com)
  • This rigorous manufacturing process gives the xGen Exome Research Panel a unique advantage over array-derived pools, in which missing or truncated probes cannot be identified before sequencing. (idtdna.com)
  • Highest on-target performance is achieved by xGen Exome Research Panel. (idtdna.com)
  • Most uniform coverage of exome achieved with xGen Exome Research Panel. (idtdna.com)
  • The xGen exome panel displays no decrease in first exon coverage with increasing sequencing depth. (idtdna.com)
  • With its announced launch of a whole-exome sequencing service for apparently healthy individuals, Ambry Genetics is the latest company to enter this growing market. (the-scientist.com)
  • Ambry Genetics is very honored to have been selected by Roche NimbleGen as the first Certified Service Provider in the United States offering the NimbleGen SeqCap EZ Human Exome product. (fiercebiotech.com)
  • Ambry Genetics First to Offer Exome Sequencing Service for Clinical Di. (bio-medicine.org)
  • ALISO VIEJO, Calif., Sept. 29, 2011 /PRNewswire/ -- Ambry Genetics today announces that it is the first laboratory to provide CLIA-approved exome services for applications in clinical diagnostics. (bio-medicine.org)
  • We did not just design this application for the exome, we needed a highly sophisticated bioinformatics pipeline tailored for our medical staff so that they could make clinical interpretations," said Xiang Li PhD, head of bioinformatics at Ambry Genetics. (bio-medicine.org)
  • Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. (sigmaaldrich.com)
  • 1-Week Exome Diagnostic is an all-in-one service delivering rapid results for early detection of diseases for our customers in diagnostics, clinical and pharmaceutical research", tells Dr. Marcus Benz, COO at GATC Biotech. (mynewsdesk.com)
  • With services based on exome sequencing becoming affordable to patients at a reasonable price, the question of the quality of the results provided has become increasingly important. (eurekalert.org)
  • Depending on the method and the laboratory, a significant fraction (more than ten percent) of the exome may be untested and this raises concerns as to how results are being communicated to patients and their families. (eurekalert.org)
  • In 10 of the patients the results of exome sequencing differed from the clinical diagnoses. (natureasia.com)