Jacob C. Ulirsch

Jul 29, 2024 | medrxiv.org | Marijn Schipper |Jacob C. Ulirsch |Danielle Posthuma |Karl Heilbron

M.S., D.P., and S.R. have nothing to disclose. J.C.U. is an employee of Illumina. K.H. is a former employee of 23andMe, Inc. and owns 23andMe, Inc. stock options. SR discloses support for the research of this work from the German Center for Mental Health (DZPG), the European Union's Horizon program (101057454, "PsychSTRATA"), and The German Research Foundation (402170461, grant "TRR265").

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.

Jul 13, 2023 | nature.com | Jacob C. Ulirsch |Masahiro Kanai |Francois Aguet |Taibo Li |Aviv Regev |Jesse M. Engreitz

AbstractGenome-wide association studies (GWASs) are a valuable tool for understanding the biology of complex human traits and diseases, but associated variants rarely point directly to causal genes. In the present study, we introduce a new method, polygenic priority score (PoPS), that learns trait-relevant gene features, such as cell-type-specific expression, to prioritize genes at GWAS loci.