Rare variant phasing using paired tumor:normal sequence data.

ABSTRACT:

Background

In standard high throughput sequencing analysis, genetic variants are not assigned to a homologous chromosome of origin. This process, called haplotype phasing, can reveal information important for understanding the relationship between genetic variants and biological phenotypes. For example, in genes that carry multiple heterozygous missense variants, phasing resolves whether one or both gene copies are altered. Here, we present a novel approach to phasing variants that takes advantage of unique properties of paired tumor:normal sequencing data from cancer studies.

Results

VAF phasing uses changes in variant allele frequency (VAF) between tumor and normal samples in regions of somatic chromosomal gain or loss to phase germline variants. We apply VAF phasing to 61

SUBMITTER: Buckley AR 

PROVIDER: S-EPMC6537421 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature