ArticleNature genetics2024
Improving fine-mapping by modeling infinitesimal effects.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals.Human molecular genetics · 2026Pooled it
- An oral, liver-restricted LXR inverse agonist for dyslipidemia: preclinical development and phase 1 trial.Nature medicine · 2026Trial
- Single-Nucleus Multi-Omic Atlas Maps Regulatory Architecture and Non-Coding Variant Effects across Adult Human Tissues.bioRxiv : the preprint server for biology · 2026Article
- Maternal and offspring genome-wide association study of C-reactive protein reveals limited polygenic association with gestational diabetes mellitus.BMC genomics · 2026Article
- Identifying independent causal cell types for human diseases and risk variants.Cell genomics · 2026Article
- Inferring multi-organ genetic connections using imaging and clinical data through Mendelian randomization.Nature biomedical engineering · 2026Article
- Locus-specific stratification and prioritization unveil genetic risk mechanism underlying complex diseases.Nature communications · 2026Article
- Functional genomic dissection and prediction of body size traits in pigs.Genetics, selection, evolution : GSE · 2026Article
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- Wavelet Decomposition-Based Genomic Analysis of the Human Electrocardiogram.medRxiv : the preprint server for health sciences · 2026Article
- A Primary Open-Angle Glaucoma Locus Near Transcription FactorOphthalmology science · 2026Article
- Multi-ancestry modeling improves fine-mapping resolution, protein prediction, and discovery for proteome-wide association studies.medRxiv : the preprint server for health sciences · 2026Article
- Common Coronary Artery Disease Risk Variants in Endothelial Regulatory Elements Modulate Tetraspanin 14 Expression and Notch Signaling.Arteriosclerosis, thrombosis, and vascular biology · 2026Article
- Joint modeling of whole-genome sequencing data for human height via approximate message passing.Cell genomics · 2026Article
- The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide fine-mapping improves identification of causal variants.Nature genetics · 2026Article
- Article
- Article
- OmiGA for ultra-efficient molecular quantitative trait loci mapping.Nature communications · 2026Article
- Practical utility of sequence-to-omics models for improving the reproducibility of genetic fine-mapping.bioRxiv : the preprint server for biology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
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 consistency by downsampling. SuSiE, FINEMAP and COJO-ABF show high RFR, indicating potential overconfidence in their output. Simulations reveal that nonsparse genetic architecture can lead to miscalibration, while imputation noise, nonuniform distribution of causal variants and quality control filters have minimal impact. Here we present SuSiE-inf and FINEMAP-inf, fine-mapping methods modeling infinitesimal effects alongside fewer larger causal effects. Our methods show improved calibration, RFR and functional enrichment, competitive recall and computational efficiency. Notably, using our methods' posterior effect sizes substantially increases polygenic risk score accuracy over SuSiE and FINEMAP. Our work improves causal variant identification for complex traits, a fundamental goal of human genetics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.