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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2012
Materias:	Original Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476336/ https://www.ncbi.nlm.nih.gov/pubmed/22942019 http://dx.doi.org/10.1093/bioinformatics/bts526

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