SpeedSeq: ultra-fast personal genome analysis and interpretation.
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ABSTRACT:
SUBMITTER: Chiang C
PROVIDER: S-EPMC4589466 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Publications
SpeedSeq: ultra-fast personal genome analysis and interpretation.
Chiang Colby C Layer Ryan M RM Faust Gregory G GG Lindberg Michael R MR Rose David B DB Garrison Erik P EP Marth Gabor T GT Quinlan Aaron R AR Hall Ira M IM
Nature methods 20150810 10
SpeedSeq is an open-source genome analysis platform that accomplishes alignment, variant detection and functional annotation of a 50× human genome in 13 h on a low-cost server and alleviates a bioinformatics bottleneck that typically demands weeks of computation with extensive hands-on expert involvement. SpeedSeq offers performance competitive with or superior to current methods for detecting germline and somatic single-nucleotide variants, structural variants, insertions and deletions, and it ...[more]
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