Article
Wham: Identifying Structural Variants of Biological Consequence.
PLoS computational biology - 1 Dec 2015
Kronenberg Zev N, Osborne Edward J, Cone Kelsey R, Kennedy Brett J, Domyan Eric T, Shapiro Michael D, Elde Nels C, Yandell Mark
Abstract excerpt
Existing methods for identifying structural variants (SVs) from short read datasets are inaccurate. This complicates disease-gene identification and efforts to understand the consequences of genetic variation. In response, we have created Wham (Whole-genome Alignment Metrics) to provide a single, integrated framework for both structural variant calling and association testing, thereby bypassing many of the...
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