Nature Communications (Oct 2016)

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

  • James Zou,
  • Gregory Valiant,
  • Paul Valiant,
  • Konrad Karczewski,
  • Siu On Chan,
  • Kaitlin Samocha,
  • Monkol Lek,
  • Shamil Sunyaev,
  • Mark Daly,
  • Daniel G. MacArthur

DOI
https://doi.org/10.1038/ncomms13293
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 5

Abstract

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Accurate estimations of the frequency distribution of rare variants are needed to quantify the discovery power and guide large-scale human sequencing projects. This study describes an algorithm called UnseenEst to estimate the distribution of genetic variations using tens of thousands of exomes.