A Retrospective Statistical Validation Approach for Panel of Normal-Based Single-Nucleotide Variant Detection in Tumor Sequencing.

Abstract excerpt

An important step of somatic variant calling algorithms for deep sequencing data is quantifying the errors. For targeted sequencing in which hotspot mutations are of interest, site-specific error estimation allows more accurate calling. The site-specific error rates are often estimated from a panel of normal samples, which has limited size and is subject to sampling bias and variance. We propose a novel...

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