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Take a Call and Make it Better

Mar 16, 2011

In new technical report in Nature Genetics, researchers from Harvard Medical School used "population-level concepts to reinterpret the technical features of sequence data that often reflect structural variation," an approach that Dan Koboldt breaks down at his blog MassGenomics. The researchers used three new analytical angles — allele sharing, population heterogeneity, and allelic substitution — to improve calls. "Together with SNP- and small indel-detection algorithms, these approaches will help realize the full potential of population-scale sequencing," Koboldt says.

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