Roy A Elzur

Nov 30, 2023 | nature.com | Ran Ji Cui |Roy A Elzur |Masahiro Kanai |Jacob C. Ulirsch |Mark Daly |Benjamin M. Neale

AbstractFine-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 consistency by downsampling.

Aug 22, 2023 | biorxiv.org | Ran Ji Cui |Roy A Elzur |Masahiro Kanai |Jacob C. Ulirsch

AbstractFine-mapping aims to identify causal variants for phenotypes. Bayesian fine-mapping algorithms (e.g.: SuSiE, FINEMAP, ABF, and COJO-ABF) are widely used, but assessing posterior probability calibration remains challenging in real data, where model misspecification likely exists, and true causal variants are unknown. We introduce Replication Failure Rate (RFR), a metric to assess fine-mapping consistency by down-sampling.