• DOI:10.1101/692368
Corpus ID: 198237708

Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes

@article{Cirulli2019GenomewideRV,
  title={Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes},
  author={E. Cirulli and S. White and R. W. Read and Gai Elhanan and W. J. Metcalf and K. Schlauch and Joseph J. Grzymski and Jt Lu and N. Washington},
  journal={bioRxiv},
  year={2019}
}

E. Cirulli, S. White, +6 authors N. Washington

Published 2019

Biology

bioRxiv

Defining the effects that rare variants can have on human phenotypes is essential to advancing our understanding of human health and disease. Large-scale human genetic analyses have thus far focused on common variants, but the development of large cohorts of deeply phenotyped individuals with exome sequence data has now made comprehensive analyses of rare variants possible. We analyzed the effects of rare (MAF<0.1%) variants on 3,166 phenotypes in 40,468 exome-sequenced individuals from the UK… CONTINUE READING

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