Results displayed in this site include gene-based rare variant test for UK-Biobank 50K exome data processed by the Regeneron pipeline. The robust SKAT-O approach has been used for the rare nonsynonymous and splicing variants with minor allele frequencies (MAFs) < 0.01 in exon regions. A total of 18,360 genes were analyzed based on 45,596 independent European samples across 791 binary phenotypes with at least 50 cases. For phenotypes with case-control ratios more extreme than 1:99, we identified the ancestry-matched control samples to make case-control ratios 1:99. Age, sex and the first 4 principal components were adjusted.
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This research has been conducted using the UK Biobank Resource under application number 45227.