Article
Improving fine-mapping by modeling infinitesimal effects.
Nature genetics - 1 Jan 2024
Cui Ran, Elzur Roy A, Kanai Masahiro, Ulirsch Jacob C, Weissbrod Omer, Daly Mark J, Neale Benjamin M, Fan Zhou, Finucane Hilary K
Abstract excerpt
Fine-mapping aims to identify causal genetic variants for phenotypes. Bayesian fine-mapping algorithms (for example, SuSiE, FINEMAP, ABF and COJO-ABF) are widely used, but assessing posterior probability calibration remains challenging in real data, where model misspecification probably exists, and true causal variants are unknown. We introduce replication failure rate (RFR), a metric to assess fine-mapping...
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