Communications Biology (Nov 2021)

A population-specific reference panel for improved genotype imputation in African Americans

  • Jared O’Connell,
  • Taedong Yun,
  • Meghan Moreno,
  • Helen Li,
  • Nadia Litterman,
  • Alexey Kolesnikov,
  • Elizabeth Noblin,
  • Pi-Chuan Chang,
  • Anjali Shastri,
  • Elizabeth H. Dorfman,
  • Suyash Shringarpure,
  • 23andMe Research Team,
  • Adam Auton,
  • Andrew Carroll,
  • Cory Y. McLean

DOI
https://doi.org/10.1038/s42003-021-02777-9
Journal volume & issue
Vol. 4, no. 1
pp. 1 – 9

Abstract

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O’Connell et al. construct a new genome-wide imputation reference panel comprising 2,269 individuals of Sub-Saharan African ancestries. They adapt DeepVariant to create best practices for reference panel development and generate a high quality, publicly available resource that will further empower high resolution genome-wide imputation efforts in individuals of African ancestries.