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Article

Integration of variant annotations using deep set networks boosts rare variant association testing.

Nature genetics - 1 Oct 2024

Clarke Brian, Holtkamp Eva, Öztürk Hakime, Mück Marcel, Wahlberg Magnus, Meyer Kayla, Munzlinger Felix, Brechtmann Felix, Hölzlwimmer Florian R, Lindner Jonas, Chen Zhifen, Gagneur Julien, Stegle Oliver

Abstract excerpt

Rare genetic variants can have strong effects on phenotypes, yet accounting for rare variants in genetic analyses is statistically challenging due to the limited number of allele carriers and the burden of multiple testing. While rich variant annotations promise to enable well-powered rare variant association tests, methods integrating variant annotations in a data-driven manner are lacking. Here we propose deep...

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Identifiers

PMID: 39322779
DOI: 10.1038/s41588-024-01919-z
PMCID: PMC11525182

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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