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Structural variation in two human genomes using de novo assembly

30 Sep 2011, Fri, 11:00
Mikhail Dvorkin

The presented paper is devoted to using whole-genome de novo assembly of second-generation sequencing reads to map structural variation (SV) in an Asian genome and an African genome. The approach identifies small- and intermediate-size homozygous variants (1-50 kb) including insertions, deletions, inversions and their precise breakpoints, and in contrast to other methods, can resolve complex rearrangements.