Sequence variation aware genome references and read mapping with the variation graph toolkit
Erik P. Garrison, Jouni Sirén, Adam M. Novak, Glenn Hickey, Jordan M. Eizenga, Eric T. Dawson, William Jones, Shilpa Garg, Charles J. Markello, Michael F. Lin, Benedict Paten, Richard Michael Durbin
The paper introduces vg, a toolkit for creating and using variation graphs as genome references, improving read mapping and variant calling accuracy over linear references.
Nature Biotechnology · Aug 20, 2018Peer-reviewedGenomics