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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Motivation: Exome sequencing has proven to be an effective tool to discover the genetic basis of Mendelian disorders. It is well established that copy number variants (CNVs) contribute to the etiology of these disorders. However, calling CNVs from exome sequence data is challenging. A typical read d...

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Autori principali: Plagnol, Vincent, Curtis, James, Epstein, Michael, Mok, Kin Y., Stebbings, Emma, Grigoriadou, Sofia, Wood, Nicholas W., Hambleton, Sophie, Burns, Siobhan O., Thrasher, Adrian J., Kumararatne, Dinakantha, Doffinger, Rainer, Nejentsev, Sergey
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3476336/
https://ncbi.nlm.nih.gov/pubmed/22942019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bts526
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