Sentences with phrase «genomic copy number»
Wang Z, Andrews P, Kendall J, Ma B, Hakker I, Rodgers L, Ronemus M, Wigler M, Levy D. SMASH, a fragmentation and sequencing method for genomic copy number analysis.
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It is thought to be due to a complex interplay between polygenic and various environmental risk factors, although recent reports on genomic copy number variations suggest that a fraction of the cases could result from variably penetrant de novo variants.
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The asexual females, regardless of the number of genomic copies they possessed, grew faster and reached reproductive maturity quicker than the sexual females, the researchers discovered.
The TGen team performed deep genomic profiling, integrating gene copy number, gene expression and DNA methylation datasets on a collection of 35 breast - brain metastases samples.
Examination of copy number variants, alternative splicing, epigenetics and genetic variants are needed to characterise the interactions between heritable and non-heritable mutations for an insight into the full genomic complexity of these little - understood disorders.
While sequences capture most of the clinical genomics attention, scientists have learned over the past decade that something called copy number variations (CNVs) also play a role.
Another distinctive genetic feature of mucosal melanoma is its high rate of copy number and structural variants, demonstrated both by array - based comparative genomic hybridization and whole - genome sequencing.
Many patients suffering from Rare Disease harbour genomic variants (sequence variants or copy number variants) that by disrupting normal gene expression lead to disease.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.
Research appearing in Developmental Cell details the discovery of genes located in two genomic regions whose copy numbers are increased in response to differentiation of the ovarian follicle cells.
Subsequently, genome - wide haplotyping and copy - number profiling was applied to investigate the genomic architecture of 171 single bovine blastomeres of 16 in vivo, 13 OPU - IVF and 13 IVM - IVF embryos.
However, being a complex multistep process, cancer cytogenetics are broadened to «cytogenomics,» with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases.
Additionally, we assess the phenotypic consequences of genomic copy - number alterations that are repeatedly observed in iPS cells.
Despite these functional implications, the structural genomic basis of copy number variation (CNV) has only been defined in detail very recently.
De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities.
He led the Broad Institute's effort to analyze somatic DNA copy number alterations for The Cancer Genome Atlas (TCGA) and is now co-principal investigator of the Broad Institute's copy number Genome Data Analysis Center for the National Cancer Institute's Genomic Data Analysis Network (GDAN).