Article
BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers.
Nucleic acids research - 18 Feb 2015
Abo Ryan P, Ducar Matthew, Garcia Elizabeth P, Thorner Aaron R, Rojas-Rudilla Vanesa, Lin Ling, Sholl Lynette M, Hahn William C, Meyerson Matthew, Lindeman Neal I, Van Hummelen Paul, MacConaill Laura E
Abstract excerpt
Genomic structural variation (SV), a common hallmark of cancer, has important predictive and therapeutic implications. However, accurately detecting SV using high-throughput sequencing data remains challenging, especially for 'targeted' resequencing efforts. This is critically important in the clinical setting where targeted resequencing is frequently being applied to rapidly assess clinically actionable...
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