Original paper

GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

Volume: 10, Issue: 1
Published: Nov 27, 2019
Abstract
Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted in sequence analysis studies, although each has a relatively large impact on the genome. Here, we present GraphTyper2, which uses pangenome graphs to genotype SVs and small variants using short-reads. Comparison to the syndip benchmark dataset shows that our SV genotyping is sensitive and variant segregation in...
Paper Details
Title
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
Published Date
Nov 27, 2019
Volume
10
Issue
1
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