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...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
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Article
Online Zugang: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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