Nature Communications (May 2021)

Identification of putative causal loci in whole-genome sequencing data via knockoff statistics

  • Zihuai He,
  • Linxi Liu,
  • Chen Wang,
  • Yann Le Guen,
  • Justin Lee,
  • Stephanie Gogarten,
  • Fred Lu,
  • Stephen Montgomery,
  • Hua Tang,
  • Edwin K. Silverman,
  • Michael H. Cho,
  • Michael Greicius,
  • Iuliana Ionita-Laza

DOI
https://doi.org/10.1038/s41467-021-22889-4
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 18

Abstract

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Association analyses that capture rare and noncoding variants in whole genome sequencing data are limited by factors like statistical power. Here, the authors present KnockoffScreen, a statistical method using the knockoff framework to detect, localise and prioritise rare and common risk variants at genome-wide scale.