Article

Genomic variant calling: Flexible tools and a diagnostic data set

2015-09-18

Abstract excerpt

1 The accurate identification of low-frequency variants in tumors remains an unsolved problem. To support characterization of the issues in a realistic setting, we have developed software tools and a reference dataset for diagnosing variant calling pipelines. The dataset contains millions of variants at frequencies ranging from 0.05 to 1.0. To generate the dataset, we performed whole-genome sequencing of a mixture...

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Literature Corpus work: 716e2b25-7bcc-599a-9b44-4a245a5d3eef
DOI: 10.1101/027227

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