Article
Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data.
Bioinformatics (Oxford, England) - 15 Apr 2017
Shringarpure Suyash S, Mathias Rasika A, Hernandez Ryan D, O'Connor Timothy D, Szpiech Zachary A, Torres Raul, De La Vega Francisco M, Bustamante Carlos D, Barnes Kathleen C, Taub Margaret A
Abstract excerpt
Motivation: Variant calling from next-generation sequencing (NGS) data is susceptible to false positive calls due to sequencing, mapping and other errors. To better distinguish true from false positive calls, we present a method that uses genotype array data from the sequenced samples, rather than public data such as HapMap or dbSNP, to train an accurate classifier using Random Forests. We demonstrate our method...
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