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.
Genekor to Distribute Rosetta Genomics' Assays
NEW YORK (GenomeWeb News) – Rosetta Genomics today said that it has granted exclusive distribution rights in Greece for three of its assays to Genekor, an Athens-based molecular diagnostics firm.
The agreement covers Rosetta's miRview meso, which differentiates lung cancer from mesothelioma; miRview mets, which is designed to determine the source of cancers of unknown primary origin; and miRview squamous, which is designed to differentiate squamous from non-squamous non-small cell lung cancer.
Kenneth Berlin, president and CEO of Rehovot, Israel-based Rosetta, noted that the alliance with Genekor is the firm's second distribution deal in Europe, and it plans to expand its distribution network to other European countries this year.
Last year, AXA Diagnostics inked a deal to serve as distributor of the tests in Italy.