Article
Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole-genome sequencing.
The pharmacogenomics journal - 1 Aug 2015
Zhang W, Soika V, Meehan J, Su Z, Ge W, Ng H W, Perkins R, Simonyan V, Tong W, Hong H
Abstract excerpt
Although many quality control (QC) methods have been developed to improve the quality of single-nucleotide variants (SNVs) in SNV-calling, QC methods for use subsequent to single-nucleotide polymorphism-calling have not been reported. We developed five QC metrics to improve the quality of SNVs using the whole-genome-sequencing data of a monozygotic twin pair from the Korean Personal Genome Project. The QC metrics...
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