Alternate-locus aware variant calling in whole genome sequencing.

ABSTRACT:

Background

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).

Methods

We developed an algorithm that analyzes the patterns of variant calls in the 178 structurally variable regions of the GRCh38 genome assembly, and infers whether a given sample is most likely to contain sequences from the primary assembly, an alternate locus, or their heterozygous combination at each of these 178 regions. We investigate 121 in-house WGS datasets that have been aligned to the GRCh37 and GRCh38 assemblies.

Results</

SUBMITTER: Jager M 

PROVIDER: S-EPMC5155401 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature