Article
Mechanisms of formation of structural variation in a fully sequenced human genome.
Human mutation - 1 Feb 2013
Pang Andy Wing Chun, Migita Ohsuke, Macdonald Jeffrey R, Feuk Lars, Scherer Stephen W
Abstract excerpt
Even with significant advances in technology, few studies of structural variation have yet resolved to the level of the precise nucleotide junction. We examined the sequence of 408,532 gains, 383,804 losses, and 166 inversions from the first sequenced personal genome, to quantify the relative proportion of mutational mechanisms. Among small variants (<1 kb), we observed that 72.6% of them were associated with...
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