Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

@article{Cirulli2020GenomewideRV,
  title={Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts},
  author={E. Cirulli and S. White and R. W. Read and G. Elhanan and W. J. Metcalf and F. Tanudjaja and Donna M. Fath and Efren Sandoval and Magnus Isaksson and K. A. Schlauch and Joseph J. Grzymski and Jt Lu and N. Washington},
  journal={Nature Communications},
  year={2020},
  volume={11}
}
  • E. Cirulli, S. White, +10 authors N. Washington
  • Published 2020
  • Biology, Medicine
  • Nature Communications
  • Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced individuals from the UK Biobank and 1934 phenotypes (1821 overlapping with UK Biobank) in 21,866 members of the Healthy Nevada Project (HNP) cohort who underwent Exome + sequencing at Helix. After using our rare-variant-tailored methodology to reduce test statistic inflation, we identify 64 statistically significant gene… CONTINUE READING
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