ArticleNature genetics2025
Fine-mapping causal tissues and genes at disease-associated loci.
Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Identifying independent causal cell types for human diseases and risk variants.Cell genomics · 2026Article
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Multi-tissue integrated Mendelian randomization method identifies disease risk genes.Briefings in bioinformatics · 2026Article
- DBCL-DFNet: Dual-Branch Contrastive Learning for Multi-Omics Dynamic Fusion.Entropy (Basel, Switzerland) · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.Research square · 2026Article
- mFABIO: An integrative multi-tissue TWAS fine-mapping approach to prioritize potentially causal genes and tissues underlying binary traits.PLoS genetics · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.medRxiv : the preprint server for health sciences · 2026Article
- scTWAS: a powerful statistical framework for single-cell transcriptome-wide association studies.Nature communications · 2026Article
- Distinguishing causal from tagging enhancers using single-cell multiome data.medRxiv : the preprint server for health sciences · 2026Article
- Integrating multi-omics and multi-context QTL data with GWAS reveals the genetic architecture of complex traits and improves the discovery of risk genes.medRxiv : the preprint server for health sciences · 2026Article
- Towards improved fine-mapping of candidate causal variants.Nature reviews. Genetics · 2025Review
- The Cleveland Family Speech and Reading Study: A Review of Long-Term Outcomes Linking Phenotypes and Genotypes for Speech Sound Disorders.Journal of speech, language, and hearing research : JSLHR · 2025Article
- GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.Genome biology · 2025Article
- Uncovering causal gene-tissue pairs and variants through a multivariate TWAS controlling for infinitesimal effects.Nature communications · 2025Article
- A multivariable cis-Mendelian randomization method robust to weak instrument bias and horizontal pleiotropy bias.Briefings in bioinformatics · 2025Article
- GWAS-Informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.bioRxiv : the preprint server for biology · 2024Article
- Uncovering causal gene-tissue pairs and variants: A multivariable TWAS method controlling for infinitesimal effects.medRxiv : the preprint server for health sciences · 2024Article
- Uncovering causal gene-tissue pairs and variants: A multivariable TWAS method controlling for infinitesimal effects.Research square · 2024Article
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5 authors.
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Abstract
Complex diseases often have distinct mechanisms spanning multiple tissues. We propose tissue-gene fine-mapping (TGFM), which infers the posterior inclusion probability (PIP) for each gene-tissue pair to mediate a disease locus by analyzing summary statistics and expression quantitative trait loci (eQTL) data; TGFM also assigns PIPs to non-mediated variants. TGFM accounts for co-regulation across genes and tissues and models uncertainty in cis-predicted expression models, enabling correct calibration. We applied TGFM to 45 UK Biobank diseases or traits using eQTL data from 38 Genotype-Tissue Expression (GTEx) tissues. TGFM identified an average of 147 PIP > 0.5 causal genetic elements per disease or trait, of which 11% were gene-tissue pairs. Causal gene-tissue pairs identified by TGFM reflected both known biology (for example, TPO-thyroid for hypothyroidism) and biologically plausible findings (for example, SLC20A2-artery aorta for diastolic blood pressure). Application of TGFM to single-cell eQTL data from nine cell types in peripheral blood mononuclear cells (PBMCs), analyzed jointly with GTEx tissues, identified 30 additional causal gene-PBMC cell type pairs.
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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 Socratic graph.