• Although aCGH followed by frozen embryo transfer has been used to screen at risk embryos (e.g., known parental chromosomal translocation or history of recurrent pregnancy loss), this is the first description of aCGH fully integrated with a clinical IVF program to select single blastocysts for fresh SET in good prognosis patients. (biomedcentral.com)
  • Both single nucleotide polymorphism (SNP) array and array CGH (aCGH) have been validated as accurate methods to achieve comprehensive chromosome screening when biopsy is performed on d3 for fresh transfer on d5 [ 26 - 30 ]. (biomedcentral.com)
  • Array comparative genomic hybridization (aCGH) enables the detection of CNVs of single and multiple exons within a given gene (Tayeh et al. (preventiongenetics.com)
  • Therefore, PreventionGenetics' aCGH enables the detection of the great majority of CNVs encompassing a single exon of a given gene or CNVs encompassing the entire gene. (preventiongenetics.com)
  • Patients with gross genomic imbalances in a region harboring one or more genes targeted on PreventionGenetics' HDGC aCGH, to confirm involvement of such gene(s). (preventiongenetics.com)
  • PreventionGenetics' high density gene-centric custom-designed aCGH enables the detection of relatively small CNVs within a single exon of a given gene or CNVs encompassing the entire gene. (preventiongenetics.com)
  • Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. (hofstra.edu)
  • The 2008 Golden Helix Symposium on 'Copy number variation and genomic alterations in health and includes lectures by more than 20 international leading scientists in the field and covers all aspects of this exciting new field, from technologies and population genomics, through chromosomal and other disorders, to validation and development of a uniform array-CGH design. (goldenhelix.org)
  • Chromosomal content was determined using Pre-implantation Genetic Testing (PGT) by either microarray-comparative genomic hybridization or Next-generation sequencing from either Day 3 (blastocysts) or Day 5 (trophectoderm) embryo biopsies, respectively. (bvsalud.org)
  • Each spermatozoon was examined morphologically, by ultra-magnification ×6300, and genetically by a novel comparative genomic hybridization protocol, without the use of reference DNA, to assess chromosomal instability as evident by copy number variations (CNV). (okilab.es)
  • Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
  • There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
  • Another advantage of ddPCR technology for quantifying both CNVs and point mutations is that single-color detection methods can be used. (bio-rad.com)
  • Structural mutations, which are large parts of the genome that are missing or duplicated, are detected using karyotyping, fluorescent in situ hybridization (FISH) or comparative genomic hybridization (CGH). (identifai-genetics.com)
  • Point mutations, which are single nucleotides (DNA building blocks) that were changed, along with indels (several-to-tens of nucleotides that are inserted or deleted), are detected using next generation sequencing (NGS). (identifai-genetics.com)
  • Of note, recent genomic studies demonstrate activating, somatic BRAF mutations in the majority of human specimens. (medscape.com)
  • Based on the heterogeneity within a specific tumor type, a combination of genomic alterations defines the cancer subtype, biologic behavior, and in some cases, response to therapeutics. (hindawi.com)
  • Additionally, comparative genomic hybridization was employed to compare genomic alterations between the CAISMOV24 cell line and its primary malignant cells. (biomedcentral.com)
  • Although the cell line had developed alongside the accumulation of genomic alterations (28 CNV in primary cells and 37 CNV in CAISMOV24), most of them were related to CNVs already present in primary malignant cells. (biomedcentral.com)
  • Our results corroborate with the idea that genomic alterations, depicted by CNVs, can be used for subtyping epithelial ovarian carcinomas. (biomedcentral.com)
  • published this month in BMC Medicine , reports on genomic and epigenetic alterations of OXTR , the gene encoding the receptor for oxytocin. (biomedcentral.com)
  • During the past several years, hundreds of new variations in repetitive regions of DNA have been identified, leading researchers to believe that copy number variations (CNVs) are as important a component of genomic diversity as single nucleotide polymorphisms (SNPs). (nature.com)
  • Alignment to the NCBI reference, a composite of several ethnic clades5, 6, disclosed nearly 3.45 million single nucleotide polymorphisms (SNPs), including 10,162 non-synonymous SNPs, and 170,202 deletion or insertion polymorphisms (indels). (blogspot.com)
  • ReadyMade Random Hexamers can be used for various applications, including cDNA synthesis and identification of single nucleotide polymorphisms. (idtdna.com)
  • You can use random sequence oligonucleotides to identify single nucleotide polymorphisms (SNPs) as well as small scale chromosome events, primarily insertions or deletions [ 5,6 ]. (idtdna.com)
  • The International HapMap Project has estimated that CNVs constitute approximately 12% of the human genome and involve a greater fraction of nucleotides than single-nucleotide polymorphisms (SNPs). (bio-rad.com)
  • The most common non-clear cell renal cancers have also undergone genomic profiling and are characterised by distinct genomic landscapes. (springer.com)
  • According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. (biomedcentral.com)
  • Some insights into clinical risk factors and their genomic correlates have been made. (springer.com)
  • This is the first study evaluating spermatozoon genomic stability with respect to vacuole morphology according to novel vacuole criteria (i.e. location and depth) and further investigation is warranted to verify the value of these criteria in larger sample size clinical studies. (okilab.es)
  • Despite the provision of clinical genetic and genomic testing services across the United Kingdom and Ireland, these probands show how a genome-driven approach in combination with detailed phenotyping can improve diagnostic yield over the previous standard of care", they write. (institut-servier.com)
  • They conclude: "Although much work remains to be done in improving genomic diagnostics and in understanding disease biology, it is clear that clinical genomics in medical practice is making a difference for patients with rare genetic disorders and their families and physicians. (institut-servier.com)
  • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. (idtdna.com)
  • Comparative Tumor Microenvironment Analysis of Primary and Recurrent Ovarian Granulosa Cell Tumors. (viictr.org)
  • In this concern, methods such as comparative genomic hybridization allow the detection of deletions and duplications of genomic segments, known as copy number variation (CNV). (biomedcentral.com)
  • 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. (bio-rad.com)
  • Summary: A number of statistical models have been successfully developed for the analysis of high-throughput data from a single source, but few methods are available for integrating data from different sources. (zbmath.org)
  • DNA purified with from such large scale blood samples with Gentra products is well suited for applications such as QIAGEN s PCR-based genotyping, molecular testing products or comparative genomic hybridization (CGH). (webwire.com)
  • The Gentra products are very complimentary to QIAGEN s product and technology portfolio providing additional solutions to enable large-scale research in biomedical, genomic and molecular diagnostic laboratories. (webwire.com)
  • Several molecular platforms have been used to investigate the molecular profile of the disease, from high throughput gene expression analyses down to single cell biological dissection. (oaepublish.com)
  • The use of circulating tumor cells (CTCs) as a "liquid biopsy" to interrogate the molecular profile of single patients is extremely encouraging, as these cells originate from primary tumor and metastatic sites, providing a comprehensive fingerprint of a given tumor at any time during the course of the disease with a simple blood draw [ 7 ] . (oaepublish.com)
  • In a linked editorial, Jennifer Posey and James Lupski, both from Baylor College of Medicine in Houston, Texas, USA, highlight this finding, saying: "The fact that a single genomic data set, iteratively reanalyzed, continues to provide molecular diagnoses years after the initial test is empowering for families with members who have rare disease. (institut-servier.com)
  • Comparative genomic hybridization (CGH) has been developed to elucidate genome-wide sequence copy number variation (CNV) between different genomes, such as the differential amplification or deletion of genetic regions between tumor DNA and normal DNA from neighboring unaffected tissue [ 7-10 ]. (idtdna.com)
  • They identified a genomic deletion containing the gene encoding for the oxytocin receptor ( OXTR ) in an autistic male individual and in his mother, who probably experienced obsessive-compulsive disorder (OCD). (biomedcentral.com)
  • Single or multiple variations in bases may be identified as well as areas where bases are missing or have been inserted in the wrong place. (msdmanuals.com)
  • The sensitivity of CGH in detecting fine changes in CNV depends on the representation of the genomic sequence of the clones, probe characteristics and signal-to-noise ratios. (bio-rad.com)
  • Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)
  • Regarding the etiology, it is generally accepted that genetic factors play a major role and it has become clear that, with the exception of a minority of instances (about 1%) in which the phenotype is caused by a single gene alteration, the genetic component leading to autism is complex, being based on interactions of multiple genetic changes and/or epigenetic regulation of gene expression. (biomedcentral.com)
  • How does a limited structural complexity of bryophytes compare with chemical and genomic complexity? (lu.se)
  • They share the common trait of having a life cycle in which the dominant generation is haploid, with a single set of chromosomes in each cell, whereas the diploid generation, with two sets of chromosomes in each cell, is short-lived. (lu.se)
  • US Patent 8,209,129 has issued on single copy DNA probes which include divergent repetitive sequences, thus significantly extending the portions of the genome that can be used for such probes beyond traditional single copy sequences. (cytognomix.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)
  • The analysis can vary in extent from a single target biomarker to entire genomes, transcriptomes, proteomes and metabolomes. (wikipedia.org)
  • Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. (frontiersin.org)
  • Nonetheless, genomic assessment has a limited role in characterizing a primary melanoma, according to the NCCN. (medpagetoday.com)
  • Pre-analytical variables for the genomic assessment of the cellular and acellular fractions of the liquid biopsy in a cohort of breast cancer patients. (cdc.gov)
  • An assessment to align these specific vacuolar morphology features with genomic stability was conducted among spermatozoa from infertile patients and healthy fertile donors aged 24-38 between June 2015 and July 2016. (okilab.es)
  • Interestingly, genomic regions without DA are enriched in epigenetic marks (DHS, H3K27Ac, H3K4me1) of accessible interphase chromatin to a greater extent than regions with DA, suggesting these differences may be correlated with epigenetic marks established during the previous interphase. (cytognomix.com)
  • show that there is genomic and epigenetic evidence of a reduced function of the oxytocin receptor in autism. (biomedcentral.com)
  • Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
  • All patients had a single fresh blastocyst transferred on d6. (biomedcentral.com)
  • A Urine-Based Genomic Assay to Triage Patients with Hematuria for Cystoscopy. (cdc.gov)
  • Single spermatozoa ( n = 53) from 16 infertile patients and 14 fertile donors were morphologically and genetically evaluated. (okilab.es)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • Ways to abrogate heterogeneity will be required to optimise the genomic classification of tumours. (springer.com)
  • We established an association between genomic stability and vacuolar morphology as a base for a new classification according to novel vacuolar criteria, specifically depth and location. (okilab.es)
  • Our results, which are based on spermatozoon vacuoles morphological classification and genomic parameters, indicate an association between vacuoles morphology and location and genomic stability. (okilab.es)
  • It is one of the most important food crops in the world, and a model plant for genomic studies of monocots. (biomedcentral.com)
  • Is there an association between spermatozoon genomic stability and vacuolar morphology and location? (okilab.es)
  • The genomic stability of spermatozoa is associated with specific characteristics of vacuolar morphology (depth) and location (cellular compartment, i.e. nucleus and equatorial region). (okilab.es)
  • However, the association between vacuoles location and morphology and genomic stability was significant. (okilab.es)
  • depth and location, as these were found aligned with genomic findings. (okilab.es)
  • Is hybridization between species important for evolutionary processes in bryophytes? (lu.se)
  • 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)
  • 3D anaglyph videos showed genomic regions with DA having nearly 5-fold larger differences in volumetric integrated probe intensities between homologs. (cytognomix.com)
  • He thanked the regional and global specialized laboratories for their efforts to provide timely results of the genomic sequencing of wild polioviruses, and for their help in planning and monitoring polio eradication activities in the Region. (who.int)
  • We show performance on simulated data and illustrate an application to data from a genomic study on human cancer cell lines. (zbmath.org)
  • Single embryo transfer (SET) remains underutilized as a strategy to reduce multiple gestation risk in IVF, and its overall lower pregnancy rate underscores the need for improved techniques to select one embryo for fresh transfer. (biomedcentral.com)
  • While only single, sporadic BU cases have been reported from regions, where the ancestral lineage of M. ulcerans is prevalent, strains of the classical lineage account for infection foci in Africa and Australia with often very high incidences. (dovepress.com)
  • However, the phenotype is quite variable ( table 1 ), and there may be marked differences between affected individuals, even within a single family [ 2-7 ]. (medilib.ir)
  • Furthermore, the algorithm more accurately estimated CNV boundaries, thereby permitting a detailed comparison with other genomic features. (analytica-world.com)
  • Genomic instability was found to be related to these two main features of vacuoles and, surprisingly not to the number and size of vacuoles as in the previously proposed classifications. (okilab.es)