Thursday, May 17, 2012

Fwd: Copy number variation detection and genotyping from exome sequence data.

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While exome sequencing is readily amenable to single-nucleotide variant discovery, the sparse and non-uniform nature of the exome capture reaction has hindered exome-based detection and characterization of genic copy number variation. We developed a novel method using singular value decomposition (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype copy number polymorphic (CNP) loci with high sensitiv

(Original Post: Copy number variation detection and genotyping fr... [Genome Res. 2012] - PubMed - NCBI.)