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.
Consortium Members Present Preliminary Results from Multiple Myeloma Genomic Effort
April 22, 2010
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Researchers involved in the Multiple Myeloma Research Consortium Genomics Initiative reported on their initial sequence and copy number analyses of multiple myeloma genomes at the American Association for Cancer Research annual meeting this week.
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