4.5 Article

Genotyping structural variants in pangenome graphs using the vg toolkit

期刊

GENOME BIOLOGY
卷 21, 期 1, 页码 -

出版社

BMC
DOI: 10.1186/s13059-020-1941-7

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资金

  1. National Human Genome Research Institute of the National Institutes of Health [U54HG007990, U01HL137183]
  2. European Molecular Biology Laboratory
  3. National Institute of Health, NHGRI [2U41HG007234]
  4. W.M. Keck Foundation [DT06172015]
  5. Carlsberg Foundation
  6. International Max Planck Research School for Computational Biology and Scientific Computing doctoral program
  7. Jack Baskin and Peggy Downes-Baskin Fellowship
  8. National Institutes of Health [5U41HG007234]
  9. Simons Foundation (SFLIFE) [35190]

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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.

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