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Strelka2: fast and accurate calling of germline and somatic variants.
Kim, Sangtae; Scheffler, Konrad; Halpern, Aaron L; Bekritsky, Mitchell A; Noh, Eunho; Källberg, Morten; Chen, Xiaoyu; Kim, Yeonbin; Beyter, Doruk; Krusche, Peter; Saunders, Christopher T.
Affiliation
  • Kim S; Illumina, Inc., San Diego, CA, USA.
  • Scheffler K; Illumina, Inc., San Diego, CA, USA.
  • Halpern AL; Illumina, Inc., San Diego, CA, USA.
  • Bekritsky MA; Illumina Cambridge Ltd, Essex, UK.
  • Noh E; Illumina, Inc., San Diego, CA, USA.
  • Källberg M; Illumina Cambridge Ltd, Essex, UK.
  • Chen X; Seven Bridges Genomics, London, UK.
  • Kim Y; Illumina, Inc., San Diego, CA, USA.
  • Beyter D; Illumina, Inc., San Diego, CA, USA.
  • Krusche P; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.
  • Saunders CT; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Nat Methods ; 15(8): 591-594, 2018 08.
Article in En | MEDLINE | ID: mdl-30013048
ABSTRACT
We describe Strelka2 ( https//github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model-based estimation of insertion/deletion error parameters from each sample, an efficient tiered haplotype-modeling strategy, and a normal sample contamination model to improve liquid tumor analysis. For both germline and somatic calling, Strelka2 substantially outperformed the current leading tools in terms of both variant-calling accuracy and computing cost.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Software / Germ-Line Mutation Limits: Humans Language: En Journal: Nat Methods Journal subject: TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2018 Document type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Software / Germ-Line Mutation Limits: Humans Language: En Journal: Nat Methods Journal subject: TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2018 Document type: Article Affiliation country: United States