Statistical challenges associated with detecting copy number variations with next-generation sequencing




Statistical challenges associated with detecting copy number variations with next-generation sequencing by Shu Mei, Yudi Pawitan, Chee Seng Ku, Kee Seng Chia and Agus Salim, published in Bioinformatics, October, 2012 Abstract Motivation: Analysing next-generation sequencing (NGS) data for copy number variations (CNVs) detection is a relatively new and challenging field, with no accepted standard protocols […]






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 […]