A statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies from mapped short sequence reads in exome sequencing data. We apply ExomeCNV to a cancer exome resequencing dataset. As expected, accuracy and resolution are dependent on depth-of-coverage and capture probe design.
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National Heart, Lung, Blood Institute of the US National Institutes of Health grant (1RC2 HL101715); National Institute for Mental Health (R01 MH071852); National Institute of Arthritis, Musculoskeletal and Skin Disorders (P30 AR057230); National Cancer Institute (P30 CA16042)