Publications

BMC bioinformatics. 2019-05-27; 20.1: 265.

Rare variant phasing using paired tumor:normal sequence data

Buckley AR, Ideker T, Carter H, Schork NJ

PMID: 31132991

Abstract

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.

This publication is listed for reference purposes only. It may be included to present a more complete view of a JCVI employee's body of work, or as a reference to a JCVI sponsored project.

Metrics