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Genotyping structural variants in pangenome graphs using the vg toolkit.
Hickey, Glenn; Heller, David; Monlong, Jean; Sibbesen, Jonas A; Sirén, Jouni; Eizenga, Jordan; Dawson, Eric T; Garrison, Erik; Novak, Adam M; Paten, Benedict.
Afiliação
  • Hickey G; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
  • Heller D; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
  • Monlong J; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Sibbesen JA; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
  • Sirén J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
  • Eizenga J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
  • Dawson ET; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
  • Garrison E; Department of Genetics, University of Cambridge, Cambridge, UK.
  • Novak AM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
  • Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.
Genome Biol ; 21(1): 35, 2020 02 12.
Article em En | MEDLINE | ID: mdl-32051000
Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV catalogs for short-read SV genotyping experiments. We benchmark vg against state-of-the-art SV genotypers using three sequence-resolved SV catalogs generated by recent long-read sequencing studies. In addition, we use assemblies from 12 yeast strains to show that graphs constructed directly from aligned de novo assemblies improve genotyping compared to graphs built from intermediate SV catalogs in the VCF format.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Variação Estrutural do Genoma / Técnicas de Genotipagem Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Variação Estrutural do Genoma / Técnicas de Genotipagem Idioma: En Ano de publicação: 2020 Tipo de documento: Article