Article
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.
Nature communications - 27 Nov 2019
Eggertsson Hannes P, Kristmundsdottir Snaedis, Beyter Doruk, Jonsson Hakon, Skuladottir Astros, Hardarson Marteinn T, Gudbjartsson Daniel F, Stefansson Kari, Halldorsson Bjarni V, Melsted Pall
Abstract excerpt
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...
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