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10.1038/nmeth.3505

http://scihub22266oqcxt.onion/10.1038/nmeth.3505
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suck abstract from ncbi


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pmid26258291
      Nat+Methods 2015 ; 12 (10 ): 966-8
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  • 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.
  • |*Genome, Human [MESH]
  • |*Software [MESH]
  • |Genetic Variation [MESH]
  • |High-Throughput Nucleotide Sequencing/*methods [MESH]
  • |Humans [MESH]
  • |Molecular Sequence Annotation/*methods [MESH]
  • |Neoplasms/genetics [MESH]
  • |Polymorphism, Single Nucleotide [MESH]
  • |Precision Medicine/methods [MESH]


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