Article
Graphtyper enables population-scale genotyping using pangenome graphs.
Nature genetics - 1 Nov 2017
Eggertsson Hannes P, Jonsson Hakon, Kristmundsdottir Snaedis, Hjartarson Eirikur, Kehr Birte, Masson Gisli, Zink Florian, Hjorleifsson Kristjan E, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Jonsdottir Ingileif, Gudbjartsson Daniel F, Melsted Pall, Stefansson Kari, Halldorsson Bjarni V
Abstract excerpt
A fundamental requirement 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 use 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...
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