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Article

Toward better understanding of artifacts in variant calling from high-coverage samples.

Bioinformatics (Oxford, England) - 15 Oct 2014

Li Heng

Abstract excerpt

MOTIVATION: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the leading causal artifacts still remain unclear even given the great efforts in the evaluation of variant calling methods. RESULTS: We made 10 single nucleotide...

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Identifiers

PMID: 24974202
DOI: 10.1093/bioinformatics/btu356
PMCID: PMC4271055

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