Article
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.
Nature genetics - 1 Apr 2022
Ebler Jana, Ebert Peter, Clarke Wayne E, Rausch Tobias, Audano Peter A, Houwaart Torsten, Mao Yafei, Korbel Jan O, Eichler Evan E, Zody Michael C, Dilthey Alexander T, Marschall Tobias
Abstract excerpt
Typical genotyping workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces reference biases and comes with substantial computational burden. Furthermore, short-read lengths limit the ability to characterize repetitive genomic regions, which are particularly challenging for fast k-mer-based genotypers. In the present study, we propose a new algorithm,...
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