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....

Full description

Bibliographic Details
Main Authors: Alexandra R. Buckley, Trey Ideker, Hannah Carter, Nicholas J. Schork
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Bioinformatics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12859-019-2753-1