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2015 ; 12
(10
): 966-8
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English Wikipedia
SpeedSeq: ultra-fast personal genome analysis and interpretation
#MMPMID26258291
Chiang C
; Layer RM
; Faust GG
; Lindberg MR
; Rose DB
; Garrison EP
; Marth GT
; Quinlan AR
; Hall IM
Nat Methods
2015[Oct]; 12
(10
): 966-8
PMID26258291
show ga
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 includes novel functionality for streamlined
interpretation.