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- Title
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
- Authors
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
- Abstract
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 depth strategy consists of using another sample (or a combination of samples) as a reference to control for the variability at the capture and sequencing steps. However, technical variability between samples complicates the analysis and can create spurious CNV calls.
- Publication
Bioinformatics (Oxford, England), 2012, Vol 28, Issue 21, p2747
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/bts526