Alternate-locus aware variant calling in whole genome sequencing

Abstract

The last two human genome assemblies have extended the previous linear golden-path paradigm of the human genome to a graph-like model to better represent regions with a high degree of structural variability. The new model offers opportunities to improve the technical validity of variant calling in whole-genome sequencing (WGS). We developed an algorithm… (More)
DOI: 10.1186/s13073-016-0383-z

Topics

10 Figures and Tables

Slides referencing similar topics