Results displayed in this site include gene-based rare variant test for UK-Biobank 200K exome data. SAIGE-GENE+ was applied to analyze 18,372 genes using three different minor allele frequency (MAF) cutoffs: 1%, 0.1%, and 0.01% and three different variant annotations: LoF only, LoF+missense, and LoF+missense +synonymous for 30 quantitative and 141 binary traits. The nine SKAT-O test p-values were then combined using the Cauchy combination or the minimum p-value approach. SKAT-O p-values of each variant set can be found in gene+phenotype page.

If you have any questions, please send email to Wei Zhou (email: wzhou@broadinstitute.org) or Seunggeun Lee (email: lee7801@snu.ac.kr )

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Wei Zhou, Wenjian Bi, Zhangchen Zhao, Kushal K. Dey, Karthik A. Jagadeesh, Konrad J. Karczewski, Mark J. Daly, Benjamin M. Neale, Seunggeun Lee, Set-based rare variant association tests for biobank scale sequencing data sets
medRxiv 2021.07.12.21260400; doi: https://doi.org/10.1101/2021.07.12.21260400


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This research has been conducted using the UK Biobank Resource under application number 45227.