Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants.

Abstract excerpt

Association tests that pool minor alleles into a measure of burden at a locus have been proposed for case-control studies using sequence data containing rare variants. However, such pooling tests are not robust to the inclusion of neutral and protective variants, which can mask the association signal from risk variants. Early studies proposing pooling tests dismissed methods for locus-wide inference using...

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