Abstract
Next-generation sequencing technologies have been widely used to query genetic variants in normal individuals as well as in those with diseases. Large-scale structural variations are a common source of genetic diversity in human population, and some of them have significant contributions to the etiology of diseases. However, the detection of large-scale structural variations from sequencing data remains challenging. Here, we describe Meerkat-an algorithm which can reliably detect structural variations from Illumina short-read sequencing data at basepair resolution. A unique feature of Meerkat is that it can infer the variant forming mechanisms based on the DNA content and features at the breakpoints.
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