Graphtyper: Population-scale genotyping using pangenome graphs
Hannes P. Eggertsson, Hákon Jónsson, Snædís Kristmundsdóttir, Eirikur Hjartarson, Birte Kehr, Gísli Másson, Florian Zink, Kristján Eldjárn Hjörleifsson, Áslaug Jónasdóttir, Aðalbjörg Jónasdóttir, Ingileif Jónsdóttir, Daniel Fannar Gudbjartsson, Páll Melsted, Kāri Stefánsson, Bjarni V. Halldórsson
Graphtyper efficiently genotypes sequence variants in large populations using pangenome graphs, achieving high accuracy and scalability.
Nature Genetics · Sep 25, 2017Peer-reviewedBioinformatics