Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Sequencing of gene-coding regions (the exome) is increasingly used for studying human disease, for which copy-number variants (CNVs) are a critical genetic component. However, detecting copy number from exome sequencing is challenging because of the noncontiguous nature of the captured exons. This i...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Fromer, Menachem, Moran, Jennifer L., Chambert, Kimberly, Banks, Eric, Bergen, Sarah E., Ruderfer, Douglas M., Handsaker, Robert E., McCarroll, Steven A., O’Donovan, Michael C., Owen, Michael J., Kirov, George, Sullivan, Patrick F., Hultman, Christina M., Sklar, Pamela, Purcell, Shaun M.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2012
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484655/
https://ncbi.nlm.nih.gov/pubmed/23040492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.005
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