A synthetic-diploid benchmark for accurate variant-calling evaluation

Nat Methods. 2018 Aug;15(8):595-597. doi: 10.1038/s41592-018-0054-7. Epub 2018 Jul 16.

Abstract

Existing benchmark datasets for use in evaluating variant-calling accuracy are constructed from a consensus of known short-variant callers, and they are thus biased toward easy regions that are accessible by these algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two fully homozygous human cell lines, which provides a relatively more accurate and less biased estimate of small-variant-calling error rates in a realistic context.

Publication types

  • Evaluation Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Algorithms
  • Benchmarking
  • Cell Line, Tumor
  • Databases, Genetic / standards
  • Databases, Genetic / statistics & numerical data*
  • Diploidy
  • Female
  • Genetic Variation*
  • Genome, Human
  • Homozygote
  • Humans
  • Hydatidiform Mole / genetics
  • Pregnancy
  • Synthetic Biology
  • Uterine Neoplasms / genetics
  • Whole Genome Sequencing / statistics & numerical data