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Graphtyper: Population-scale genotyping using pangenome graphs

2017-06-09

Abstract excerpt

A fundamental requisite for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to utilize this knowledge in sequence analysis. Here we present Graphtyper, a publicly available novel algorithm and software for discovering and genotyping sequence variants. Graphtyper realigns short-read seque...

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Literature Corpus work
13fd19ed-a562-5ad7-9347-50755c7dd533
DOI
10.1101/148403
Open publication

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Graphtyper: Population-scale genotyping using pangenome graphsDOI 10.1101/148403
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