Article

Flexibly Modeling Rare Variant Pathogenicity Improves Gene Discovery for Complex Traits

2025-11-05

Abstract excerpt

Rare variant burden tests can directly identify genes that influence complex traits, but their power is limited by our ability to separate functional from benign alleles. We introduce FlexRV, an approach that greatly improves the power to detect gene-based associations in rare variant aggregation tests by modelling nonlinear relationships between functional annotations and phenotype. Across 62 quantitative and 44...

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Literature Corpus work: e999ac2f-b54a-5b4d-aa36-4024ebea155a
DOI: 10.1101/2025.11.04.686320

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