Method to Detect CNV via Mated Short Reads
Medvedev, Fiume et al., Genome Research
Researchers at the University of Toronto describe a method to detect copy-number variation via mated short reads, wherein "matepairs mapping discordantly to the reference serve to indicate the presence of variation." CNVer — the team's algorithm — combines this information and allows researchers to "mitigate the sequencing biases that cause uneven local coverage and accurately predict CNVs." The team used CNVer on a recently described genome of a Yoruban individual and detected 4,879 CNVs. "CNVer can reconstruct the absolute copy counts of segments of the donor genome and evaluate the feasibility of using CNVer with low coverage datasets," the authors add.
BGI to Sequence Tiger, Lion, and Leopard Species This Year
The project, announced just before the start of the Chinese year of the tiger last weekend, is part of BGI's goal to sequence the genomes of 1,000 plant and animal reference species over the next two years.
New to GenomeWeb? Register quickly here.