Specific genomic structural variation. Medical search. Frequent questions

Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. (researchgate.net)
PG2 integrates genome and transcriptome sequencing to incorporate protein variants containing amino acid substitutions, insertions, and deletions, as well as non-canonical reading frames, exons, and other variants caused by genomic and transcriptomic variation. (biorxiv.org)
This has led to the development of graph-based references, able to naturally represent all polymorphisms, including insertions, deletions, and structural variation. (sevenbridges.com)
In total, KoVariome includes 12.7M single-nucleotide variants (SNVs), 1.7M short insertions and deletions (indels), 4K structural variations (SVs), and 3.6K copy number variations (CNVs). (nature.com)
Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)
Some SVs, such as deletions and duplications, change the dosage of DNA and are considered copy number variations (CNVs). (mdanderson.org)
While whole gene duplications and deletions are relatively well-studied, the biology of subexonic ( i.e. , within coding exon sequences), copy number variation remains elusive. (nature.com)
In Specific Aim 2, the minimal tiling path of BAC clones encompassing five alleles will be sequenced and a variation map containing all the insertions, deletions or inversions as well as nucleotide polymorphisms, will be generated. (elsevierpure.com)

Thus, continuous monitoring of the viral genomic alterations would be vital to identify potential targets for drug or vaccine development. (news-medical.net)
Large-scale genomic alterations play an important role in disease, gene expression, and chromosome evolution. (lu.se)
Optical DNA mapping (ODM), commonly categorized into sparsely-labelled ODM and densely-labelled ODM, provides sequence-specific continuous intensity profiles (DNA barcodes) along single DNA molecules and is a technique well-suited for detecting such alterations. (lu.se)
For sparsely-labelled barcodes, the possibility to detect large genomic alterations has been investigated extensively, while densely-labelled barcodes have not received as much attention. (lu.se)
Since ODM works on length scales typically not reachable with other techniques, our methodology is a promising tool for identifying arbitrary combinations of genomic alterations. (lu.se)
Problems that arise during DNA replication can drive genomic alterations that are instrumental in the development of cancers and many human genetic disorders. (elifesciences.org)
Copy number variations (CNVs) are genomic alterations that result in an abnormal number of copies of one or more genes. (wren-clothing.com)
Acute lymphoblastic leukemia (ALL) is the commonest childhood malignancy and is characterized by recurring structural genetic alterations. (lu.se)
Finally, we identified aberrant methylation in multiple genes also targeted by recurring DNA copy number alterations in ALL, suggesting that these genes are inactivated far more frequently than suggested by structural genomic analyses alone. (lu.se)
Together, these results demonstrate subtype- and disease-specific alterations in cytosine methylation in ALL that influence transcriptional activity, and are likely to exert a key role in leukemogenesis. (lu.se)
Alterations in the GLUT10 protein caused by SLC2A10 gene variations may also affect TGF-β signaling and increase the risk of blood vessel problems in diabetes. (medlineplus.gov)

My lab is interested in understanding how the variation in genomes of Indians predisposes them to disparities in health and disease. (ccmb.res.in)
As part of large nation-wide population genomics programs, we map the natural variation in healthy genomes. (ccmb.res.in)
KoVariome health records were used to identify novel disease-causing variants in the Korean population, demonstrating the value of high-quality ethnic variation databases for the accurate interpretation of individual genomes and the precise characterization of genetic variations. (nature.com)
Genome instability is a hallmark of cancer and somatic structural variations (SVs) are common in cancer genomes. (harvard.edu)
Currently, the choice of labeled patterns is based on the available bio-chemical methods, and is not necessarily optimized for the application.ResultsIn this work, we develop a model of OGM based on information theory, which enables the design of optimal labeling patterns for specific applications and target organism genomes. (edu.in)
Optical Genome Mapping is non-sequencing technology capable of analyzing large eukaryotic genomes and their structural features at a high resolution by evaluation of patterns generated by fluorophore tags labeled to specific sequence motifs within extremely long DNA molecules, of more than 300 kb (3, 4). (mdanderson.org)
Cancer genomes frequently harbor high mutation rates, complex structural variations, and are characterized by genome instability. (harvard.edu)
Genomic testing for treating chronic kidney disease (CKD) has seen progress in the areas in which genomes can inform treatment. (ajmc.com)
Genomic structural variants constitute the majority of variable base pairs in primate genomes and affect gene function in multiple ways. (nature.com)
When two genomes from the same primate species are compared with each other, structural variants constitute 2 to 7 times more base pair differences than single nucleotide variants 2 . (nature.com)
In contrast to the coding parts of our genomes, where humans and chimpanzees are close to identical, the non-coding parts show great interspecies variation. (lu.se)

In 2004, a former graduate student, Julie Kerns, described the configuration of the dog ASIP gene based on a large genomic fragment cloned from a Doberman Pinscher (7). (springernature.com)

We will evaluate and analyse genomic tests that were already performed or advise to conduct comprehensive genomic tests of the tumour tissue or patient's blood or saliva to look for biomarkers in the tumour sample or the patient for the development of enhanced patient treatment strategies for improved outcomes. (rfhospital.org)

However, recent studies in many organisms and in humans have revealed significant protein sequence variation due to the presence of somatically acquired genetic variants, alternative transcription, and mRNA splicing, which are not necessarily annotated in reference databases. (biorxiv.org)
GRAF™ Pan Genome Reference - contains both small variants (SNPs and INDELs up to several dozens of base-pairs in length) as well as larger structural variants, which are typically difficult to identify from short-read sequencing data. (sevenbridges.com)
This graph is augmented with population-specific structural variants obtained from PacBio HiFi reads. (sevenbridges.com)
GRAF™ Variant Caller - enables integrated calling of SNPs and INDELs, as well as structural variants present in the Genome Graph. (sevenbridges.com)
High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants. (nature.com)
This case study highlights how a wide range of tumour-specific variation that can be captured within a single nanopore sequencing assay - from complex structural variants to epigenetic modifications. (nanoporetech.com)
Learn how nanopore technology can accurately resolve complex structural variants to provide new insight into the mechanisms of health and disease. (nanoporetech.com)
His lab is both experimental and computational and is focused on understanding heritable genomic structural variants (SVs) in cancer. (blogspot.com)
Some structural variants are difficult to analyse, e.g. balanced polymorphic inversions with no copy number change. (blogspot.com)
Here, the authors identify structural variants of independent regulatory modules for ventral and hair cycle expression of the ASIP gene that explain five distinctive dog colour patterns and trace back the origin of one colour pattern to an extinct canid. (springernature.com)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)
Detects all types of Structural Variants (SVs) down to 5% Variant Allele Fraction for mosaic samples or heterogeneous cancer samples. (mdanderson.org)

Detect and Differentiate any Genomic Target Including Inversions Starting at 2kb. (kromatid.com)

Mice with mutations in genes that regulate an important DNA replication complex, called the minichromosome maintenance complex or MCM, are susceptible to genomic instability and cancer. (nih.gov)
Female-biased embryonic death from inflammation induced by genomic instability. (nih.gov)
The PSV markers will be used in the future to type our cohort of 250 VCFS/DGS patients with the typical 3 Mb deletion and their normal parents to identify signatures of genomic instability. (elsevierpure.com)

The study of structural variation within species and the characterization of the pan-genome has revealed extensive genome content variation among individuals within a species that is paradigm shifting to crop genomics and improvement. (biomedcentral.com)

Network analyses indicated that the PR specific genes were predominantly involved in gastrointestinal disease, immunological disease, inflammatory response, cell-to-cell signaling and interaction, lymphoid tissue development and cell death. (usda.gov)
Network analyses indicated that the PS specific genes were particularly enriched for inflammatory response, immune cell trafficking, metabolic disease, cell cycle, and cellular organization and movement. (usda.gov)
This information can be used for various genomic analyses and applications, such as the detection of structural variations and copy-number variations, epigenomic profiling, and microbial species identification. (edu.in)
This resource includes tools for clinical, biochemical, genetic, structural and computational analyses as well as links to related information maintained by others. (lu.se)

We benchmarked PG2 using synthetic data and genomic, transcriptomic, and proteomic analysis of human leukemia cells. (biorxiv.org)
IKB contains information for human immunome genes and proteins, phylogenetic trees and evolutionary information for immunome orthologs, ortholog groups for metazoan immunome, and variation data on genomic, transcriptomic and proteomic level. (lu.se)

Therefore comparative genomic analysis of T . equi was undertaken to: 1) identify genes contributing to immune evasion and persistence in equid hosts, 2) identify genes involved in PBMC infection biology and 3) define the phylogenetic position of T . equi relative to sequenced apicomplexan parasites. (biomedcentral.com)
Comparative genomic analysis of T . equi revealed the phylogenetic positioning relative to seven apicomplexan parasites using deduced amino acid sequences from 150 genes placed it as a sister taxon to Theileria spp . (biomedcentral.com)
Haplotype-specific PAVs contain hundreds of single-copy, expressed genes that may contribute to heterosis and to the extraordinary phenotypic diversity of this important crop. (umn.edu)
Genomic testing can benefit patients with chronic kidney disease (CKD) as more causative genes are identified and evidence for clinical utility is discovered. (ajmc.com)
The first area that genomic testing can be valuable in CKD care is in the understanding of which genes are associated with CKD or its phenotypes. (ajmc.com)
There are some challenges to whether the genetic variation in these genes relates to heritable phenotypes. (ajmc.com)
Understanding clinical utility for genomic testing is becoming the focus of further research, as there are less than 10 genes that account for many diagnoses made. (ajmc.com)

In this work, we introduce HMMSV, a hidden Markov model (HMM) based algorithm for detecting structural variations (SVs) directly in densely-labelled barcodes without access to sequence information. (lu.se)
As a part of the Korean Personal Genome Project (KPGP), we constructed the KoVariome database using 5.5 terabases of whole genome sequence data from 50 healthy Korean individuals in order to characterize the benign ethnicity-relevant genetic variation present in the Korean population. (nature.com)
For the future direction, we need the in-depth genome sequence information and analysis for most of the mammals, including human to fully understand genome variation of economic traits, genetic susceptibility to diseases, and pharmacogenomics of drug response. (springer.com)
Entrez is NCBI's primary text search and retrieval system that integrates the PubMed database of biomedical literature with 38 other literature and molecular databases including DNA and protein sequence, structure, gene, genome, genetic variation and gene expression. (nih.gov)
This is mainly the identification and comparison of the genomic features such as DNA sequence, structural variation, gene expression, or regulatory and functional element annotation at a genomic scale which helps identify the specific tumour mutation which provides personalised treatment to the patient. (rfhospital.org)
And structural variation hotspots in the human genome are formed by single processes at each hotspot, that is the underlying sequence drives the kind of SV seen in a hotspot. (blogspot.com)
Between the resources available in Tosso's lab and Danika's knowledge of color patterns and experience in evaluating sequence data for structural variation the fit was perfect. (springernature.com)
AbstractMotivationOptical genome mapping (OGM) is a technique that extracts partial genomic information from optically imaged and linearized DNA fragments containing fluorescently labeled short sequence patterns. (edu.in)
Megabase size molecules of genomic DNA are isolated and labelled at a specific 6 or 7 base pair sequence motifs. (mdanderson.org)
We divide the field of genomics into genotyping (focused on the genome sequence), transcriptomics (focused on genomic expression) and epigenomics (focused on epigenetic regulation of genome expression). (bmj.com)
In Specific Aim 1, we will characterize the modular domain organization of LCR22-2 and LCR22-4, by generating BAC based physical maps by screening filters containing BAC clones from different libraries, obtaining end sequence and typing with PCR markers. (elsevierpure.com)
Structural and sequence variation within the two LCR22s has not been defined. (elsevierpure.com)
Understanding the basis for 22q11.2 rearrangements on the sequence level can serve as a model for other newly discovered genomic disorders, such as the reciprocal duplication disorder on 22q11.2 and elsewhere in the genome. (elsevierpure.com)
An allele is one of two or more versions of DNA sequence (a single base or a segment of bases) at a given genomic location. (genome.gov)

ABSTRACT: The structural stability of guanine quadruplexes depends critically on an unusual configuration of dehydrated Na+ or K+ ions, closely spaced along the central axis of the quadruplex. (lu.se)

Despite having an identical genome, cells can be regulated differently via epigenetic mechanisms that result in cell specific gene expression patterns. (ccmb.res.in)
There are many mechanisms that can generate a structural variation. (biomedcentral.com)
Jan Korbel , Mechanisms of genomic structural variation in germline and cancer. (blogspot.com)

Because of significant biochemical and structural variations between valine and phenylalanine, a G to T mutation may alter the local structural architecture, facilitate secondary structure stabilization, or introduce preferential binding motifs. (news-medical.net)
Specifically, the mutation occurred in non-structural protein 7 (NSP7), which mediates the formation of RNA polymerase complex necessary for viral replication and transcription. (news-medical.net)
Further trials show the novel method works effectively to discriminate mutations in not only general allele specific (AS)-PCRs, but also amplification refractory mutation system (ARMS)-PCR. (researchsquare.com)
Studies on the prevalence of Using a proteinase K and a saline extrac- the FVL mutation have revealed an uneven tion protocol, genomic DNA was extracted ethnic and geographical distribution. (who.int)

Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
For gene therapy applications analysis of specific edits or engineered cell lines are measured for any structural variation involved with the edit site, including rearrangements involving on-target and off-target loci. (kromatid.com)

We previously reported an initial analysis of copy number variations (CNVs) in Angus cattle selected for resistance or susceptibility to gastrointestinal nematodes. (usda.gov)
Selected PR or PS specific CNVs were further experimentally validated by quantitative PCR (qPCR). (usda.gov)

Using single cell genomic technologies, we analyze the gene expression and epigenetic profiles of various cells to understand cell heterogeneity. (ccmb.res.in)
In chronobiology, rhythms (for instance in gene expression, eclosion, egg-laying and feeding) tend to be low amplitude, display large variations amongst replicates, and often exhibit varying peak-to-peak distances (non-stationarity). (edu.in)

The International HapMap project resolved human haplotypes into more than one million common single nucleotide polymorphisms (SNPs) in an effort to catalogue genetic variations associated with diseases 3 . (nature.com)
While the process of substitution of the nucleotides are constantly occurred among men, specific SNPs located in a critical genomic region tend to inflict differences in the susceptibility of various diseases such as sickle-cell anemia, cystic fibrosis, and Alzheimer's disease [2-4]. (researchsquare.com)

In particular, our interests lie in two classes of variations known as structural variations and tandem repeats. (ccmb.res.in)

GRAF™ Stats - calculates graph-specific alignment metrics and measures the utilization of the graph reference in read alignment, in addition to standard metrics such as coverage, unmapped, multi-mapped read counts and improper alignments. (sevenbridges.com)

Iterative progress continues in heritable structural kidney disorders. (ajmc.com)

As a result, numerous population genomic studies have been performed to characterize ethnicity-relevant variations. (nature.com)
Characterize structural variations from mis-repair of your edit sites. (kromatid.com)

Consequently, graph references provide the means to both accurately detect structural variation and thus reduce spurious variant calls. (sevenbridges.com)
Here we present an end-to-end workflow to detect somatic variation between tumour-normal paired research samples. (nanoporetech.com)

Several normal variations (polymorphisms) of the SLC2A10 gene have been associated with an increased risk of peripheral artery disease in people with type 2 diabetes , a disorder in which resistance to the hormone insulin leads to excess glucose levels in the blood (hyperglycemia). (medlineplus.gov)

Changes in mitochondrial function related to GLUT10 deficiency may also affect cardiovascular system development, but the relationship between mitochondrial function and the specific signs and symptoms of arterial tortuosity syndrome is unclear. (medlineplus.gov)
This enabled them to identify a Zinc finger protein (ZNF) specifically expressed in humans and not chimpanzees and demonstrate that the human-specific ZNF (named ZNF558) is crucial for both mitochondrial homeostasis and early human brain development. (lu.se)

Discover the unique attributes of nanopore sequencing that are enabling researchers to characterise cancer at unprecedented resolution, unlocking previously hidden variation and accelerating research. (nanoporetech.com)
Each cancer patient deserves Personalized Cancer Treatment that is specific to their cancer! (rfhospital.org)
Although standard of care guidelines are specific to the cancer type and may involve different modalities of cancer treatment like surgery, radiation, chemotherapy, targeted therapy and immunotherapy as single modality or in combination, understanding the unique biology of each tumour has become integral to cancer care. (rfhospital.org)
Is it possible to move the goal-posts and say that a clinical "test" no longer revolves around the actual sequencing of a cancer gene, as in the case of BRCA1/2 screening, but is now more about the algorithm used to ask specific questions of what could be a lifetime stored data set? (blogspot.com)

The structural variation that has been uncovered in the pan-genome era necessitates a reevaluation of the determinants of phenotype. (biomedcentral.com)

Based on our findings, we propose that IFSA is a potential threat to genomic stability in eukaryotes. (elifesciences.org)

Whole-genome, array-based, comparative genomic hybridization (CGH) revealed a level of structural diversity between the inbred lines B73 and Mo17 that is unprecedented among higher eukaryotes. (umn.edu)

To support the quickly evolving public health crisis caused by the coronavirus pandemic, The Jackson Laboratory for Genomic Medicine (JAX-GM), located in Farmington, Connecticut, is partnering with the Connecticut Department of Public Health (DPH), UConn Health and Hartford HealthCare to provide the State with significant additional coronavirus testing capacity. (jax.org)
Overall, the molecular and biologic characteristics of the strain HSR1 provide evidence that SARS-CoV forms a fourth genetic coronavirus group with distinct genomic and biologic features. (cdc.gov)

We evaluate our approach using simulated data-sets with 5 different types of SVs, and combinations thereof, and demonstrate that the method reaches a true positive rate greater than 80% for randomly generated barcodes with single variations of size 25 kilobases (kb). (lu.se)
Not surprisingly, machine learning studies that leverage structural dynamics data now increasingly gain traction. (bilkent.edu.tr)
Analysis of high coverage sequencing data (more than 30x) from 10,000 individuals showed that each newly analyzed genome added roughly 0.7MB of new sequences to the human reference genome and contributed an average of 8,579 new SNVs to the existing human variation data set 13 . (nature.com)
Join us for on-booth product demonstrations, Data for Breakfast, and our Industry Education Session which will showcase how nanopore technology can resolve even the most complex genetic variation. (nanoporetech.com)
All available investigations will be reviewed, including any previously available genomic data, histopathology, scans and other investigations. (rfhospital.org)
A detailed genomic analysis with hands on genomic data curation will also be done by the precision team. (rfhospital.org)
These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. (biomedcentral.com)
IDbases are locus-specific databases for immunodeficiency-causing variations, which contain in addition to variation information also some clinical data. (lu.se)

Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. (wikipedia.org)
KinMutBase is a comprehensive database of disease-causing variations in protein kinase domains. (lu.se)

No specific biochemical test exists for the presence of medulloblastoma, although several molecular studies have revealed that histologically identical medulloblastomas are composed of distinct subgroups with different prognosis. (medscape.com)

Since the emergence of the COVID-19 pandemic, many genomic studies have shown that the SARS-CoV-2 genome undergoes recurrent mutations, indicating a continuous viral adaptation process inside host cells. (news-medical.net)

Our way of thinking about crop genomics is changing as we gain a deeper understanding of the structural variation within the pan-genome. (biomedcentral.com)

Fig. 1 ) were discovered, with the first two classes contributing to the variation in genome content. (biomedcentral.com)

The investigation of genetic variations which involves in genetic disorders and cancers is essential for predicting cures, establishing treatment methods, and observing prognosis and relapse. (researchsquare.com)
Non-allelic homologous recombination (NAHR) events between two, 240 kb low copy repeats, termed LCR22-2 and LCR22-4, mapping 3 Mb apart, lead to several genomic disorders including velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), occurring in 1/4,000 live births. (elsevierpure.com)

a) Genomic location, organization and subexonic copy number variation of the MUC7 gene in the human reference genome (GRCh37/hg19). (nature.com)
Structural variation (SV) influences genome organization and contributes to human disease. (biomedcentral.com)

The completion of the human genome marked the beginning of our concerted efforts to understand and catalogue genetic variation across human populations. (nature.com)

Dogs exhibit remarkable variation in colour patterns. (springernature.com)
Dog color patterns are further complicated by epistatic interactions such as white spotting and a nomenclature that can be breed-specific and idiosyncratic, e.g., the distribution of pheomelanin and eumelanin in a "red-headed tricolor" Welsh Corgi is similar to that of a "black and tan" German Shepherd Dog. (springernature.com)
Tosso's lab had studied ASIP variation in domestic goats and rabbits with different color patterns and characterized the different promoters of the canine ASIP gene (10, 11). (springernature.com)

Illumina single nucleotide polymorphism (SNP) chips, kompetitive allele-specific PCR (KASP) assays, genotyping-by-sequencing (GBS)) and sequencing (e.g. (biomedcentral.com)

The group in Bern had a large collection of dog whole genome sequences, many with photographs that allowed Danika to think carefully about pattern phenotypes and their potential correlation with ASIP genomic variation. (springernature.com)

GRAF™ Extended Germline Variant Detection Workflow - makes use of an ancestry-aware genome graph (i.e. a population-specific reference) in order to increase sensitivity towards the population represented by the graph reference. (sevenbridges.com)

The extent of structural variation, including copy number variation (CNV) and presence/absence variation (PAV), which are thought to contribute to the extraordinary phenotypic diversity and plasticity of this important crop, have not been elucidated. (umn.edu)

An individual inherits two alleles, one from each parent, for any given genomic location where such variation exists. (genome.gov)

Large-scale variome studies, such as those previous discussed, have significantly increased our understanding of variation in the human population, however, the population composition is still broadly biased towards Europeans (54.97% in ExAC 12 and 78.55% in Telenti et al . (nature.com)

Recent advances in nucleic acid sequencing now permit rapid and genome-scale analysis of genetic variation and transcription, enabling population-scale studies of human biology, disease, and diverse organisms. (biorxiv.org)
Basic Protocol 1: qPCR for CNV analysis This is a basic protocol for quantification of copy number from genomic DNA. (wren-clothing.com)

Initial efforts to dissect the genetic architecture of traits (e.g., quantitative trait locus (QTL) mapping and genome-wide association studies (GWAS)) and genomic prediction efforts have relied primarily on SNP markers. (biomedcentral.com)
Clinical effects of genomic testing for CKD have also been revealed through studies. (ajmc.com)

However, there is no study to our knowledge that specifically investigated the evolution of copy number variable subexonic repeats from their initial emergence as functional units to the adaptive constraints and mutational properties that contributed to their extant variation in primates. (nature.com)
MUC7 provides an opportunity to assess the broader implications of subexonic repeat variation within the context of the functional evolution of the mucin functional group and primate salivary adaptation. (nature.com)

The salivary MUC7 gene provides an opportunity for studying such variation, as it harbors copy number variable subexonic repeat sequences that encode for densely O-glycosylated domains (PTS-repeats) with microbe-binding properties. (nature.com)

Identifying these variations are not only critical for human welfare, but also for the selection and breeding of species and origin verification in agriculture [1]. (researchsquare.com)
Recent innovations are driving a paradigm shift in which the extent and relevance of structural variation within the pan-genome of crop species are now being considered. (biomedcentral.com)
In characterizing this variation, the genomic fraction common to all individuals within a species has been termed the "core" genome and the variable fraction the "dispensable" genome. (biomedcentral.com)
I am a theoretical population geneticist with a special interest in the evolutionary consequences of sex-specific selection for species without separate sexes. (lu.se)

These developed HT-NGS strategies addressed our anticipated future needs of throughput sequncing and cost, in a way which enabled its potential multitude of current and future applications in mammalian genomic research. (springer.com)
The HT-NGS is one of the great challenges of today's genomic research. (springer.com)
Customized to meet individual genomic structural research needs unique to your project. (kromatid.com)
Structural variations are the main focus of Dr Korbel's research and he developed the paired-end mapping approaches , read depth , split reads , etc. (blogspot.com)
This direct observation results in some of the longest read lengths in genomic research. (mdanderson.org)
My research covers a variety of questions, all related to sex-specific selection, the evolution of recombination suppression between sex chromosomes, genome structural evolution, and evolutionary demography of partially selfing populations. (lu.se)

Until recently, real-time quantitative PCR (qPCR) assays and microarray hybridization have been the main methods used to determine copy number variation (CNV) in the genome. (wren-clothing.com)
1991) and quantification of copy number variation by real-time PCR. (wren-clothing.com)
Copy number variation of a gene cluster encoding endopolygalacturonase mediates flesh texture and stone adhesion in peach. (cas.cn)

These findings identify genetic damage underlying inflammation and how they contribute to gender-specific pregnancy loss. (nih.gov)
First, we identify genetic variation of individuals using cutting-edge high throughput sequencing technologies. (ccmb.res.in)
To better understand the current landscape of genetic and genomic testing for RDs in Brazil, we convened an expert panel to assess the landscape, identify barriers and opportunities for improvement, and propose solutions. (biomedcentral.com)

JAX-GM will utilize its expertise in genomic solutions and its Connecticut-licensed CLIA (Clinical Laboratory Improvement Amendments) and CAP accredited laboratory to test patient samples for a specific RNA signature unique to SARS-CoV-2, the virus that causes COVID-19. (jax.org)

As a result, Bionano mapping yields hundreds of times more contiguous assembly than sequencing technologies alone can provide with unparalleled sensitivity for large structural variations (SVs) from 500 bp to mega base pair lengths. (mdanderson.org)
Before accepting the analogy between operant conditioning and natural selection, it is necessary to understand the laws of variation and retention of behavior and to explain how this sensitivity occurs and how it affects behavior. (bvsalud.org)

Chemicals and Drugs3

Phenomena and Processes4

Information Science1

Deletions8

Alterations11

Genomes11

Large genomic1

Comprehensive genomic1

Variants12

Inversions1

Instability3

Characterization1

Analyses4

Transcriptomic2

Genes7

Sequence14

Abstract1

Mechanisms3

Mutation4

Rearrangements3

CNVs2

Gene expression2

SNPs2

Tandem repeats1

Metrics1

Heritable1

Characterize2

Detect2

Polymorphisms1

Mitochondrial2

Cancer4

Phenotype1

Stability1

Comparative1

Coronavirus2

Data8

Protein2

Biochemical1

Pandemic1

Genomics1

Genome content1

Disorders2

Organization2

Human genome1

Patterns3

Allele specific1

Whole genome1

Detection1

Presence-absence variation1

Alleles1

Understanding1

Analysis2

Studies2

Functional2

Repeats1

Species4

Research6

Copy3

Identify3

Laboratory1

Sensitivity2