Nature Communications (Jun 2020)

Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats

  • David Jakubosky,
  • Erin N. Smith,
  • Matteo D’Antonio,
  • Marc Jan Bonder,
  • William W. Young Greenwald,
  • Agnieszka D’Antonio-Chronowska,
  • Hiroko Matsui,
  • i2QTL Consortium,
  • Oliver Stegle,
  • Stephen B. Montgomery,
  • Christopher DeBoever,
  • Kelly A. Frazer

DOI
https://doi.org/10.1038/s41467-020-16481-5
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 15

Abstract

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The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and HipSci using five algorithms.