Article
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.
BMC bioinformatics - 8 Apr 2021
Dudley Jeffrey N, Hong Celine S, Hawari Marwan A, Shwetar Jasmine, Sapp Julie C, Lack Justin, Shiferaw Henoke, Johnston Jennifer J, Biesecker Leslie G
Abstract excerpt
BACKGROUND: The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic variants from next-generation sequencing data remains challenging. RESULTS: Here, we present a method for Position-Based Variant Identification (PBVI) that uses empirically-derived distributions of alternate nucleotides from a control dataset. We...
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