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Article

Empirically determined baseline masking strategies and other considerations for gene-level burden tests.

Nature genetics - 1 Jun 2026

Nguyen Trang, Koesterer Ryan, Haydarlou Poeya, Dornbos Peter, Yoshiji Satoshi, Llamas Alex, Jang Dongkeun, Smadbeck Patrick, Moriondo Annie, Hoang Quy, Ruebenacker Oliver, Bezzina Connie R, Ellinor Patrick, Jurgens Sean J, Burtt Noël P, Flannick Jason

Abstract excerpt

Rare-variant association studies typically perform gene-level tests in which coding variants are filtered (or 'masked') and aggregated based on functional annotation and allele frequency. Through a systematic literature review, we cataloged 664 masks used across 234 studies and found that masking strategies (that is, sets of masks) rarely repeat across studies and are rarely justified. To quantify their impact on...

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Identifiers

PMID: 42104092
DOI: 10.1038/s41588-026-02597-9
PMCID: PMC13263148

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