Browsing by Keywords "Copy number variation"
Now showing items 1-7 of 7
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The BioPAX community standard for pathway data sharing
(Nature Publishing Group, 2010-09)Biological Pathway Exchange (BioPAX) is a standard language to represent biological pathways at the molecular and cellular level and to facilitate the exchange of pathway data. The rapid growth of the volume of pathway ... -
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
(Cell Press, 2015)Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, ... -
Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal
(American Association for the Advancement of Science (A A A S), 2013)The cBioPortal for Cancer Genomics (http://cbioportal.org) provides a Web resource for exploring, visualizing, and analyzing multidimensional cancer genomics data. The portal reduces molecular profiling data from cancer ... -
Inter-varietal structural variation in grapevine genomes
(Wiley-Blackwell Publishing Ltd., 2016)Grapevine (Vitis vinifera L.) is one of the world's most important crop plants, which is of large economic value for fruit and wine production. There is much interest in identifying genomic variations and their functional ... -
Paralog-specific gene copy number discovery within segmental duplications
(Bilkent University, 2019-09)With the advancing technology in genome sequencing and analysis, it has become evident that the structural variations are the main source of alteration in human genome. Despite their signi cance in understanding disease ... -
Polishing copy number variant calls on exome sequencing data VIA deep learning
(Bilkent University, 2021-07)Accurate and efficient detection of copy number variants (CNVs) is of critical importance due to their significant association with complex genetic diseases. Although algorithms that use whole genome sequencing (WGS) data ... -
Whole-genome shotgun sequence CNV detection using read depth
(Humana Press, 2018)With the developments in high-throughput sequencing (HTS) technologies, researchers have gained a powerful tool to identify structural variants (SVs) in genomes with substantially less cost than before. SVs can be broadly ...