Copy number variation detection and genotyping from exome sequence data




Copy number variation detection and genotyping from exome sequence data by Niklas Krumm, Peter H. Sudmant, Arthur Ko, Brian J. O’Roak, Maika Malig, Bradley P. Coe, Aaron R. Quinlan, Deborah A. Nickerson and Evan E. Eichler published in August 2012 Genome Research. Abstract While exome sequencing is readily amenable to single-nucleotide variant discovery, the sparse […]