ArticleGenome biology2020
Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of pleiotropy in complex traits.
Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling.Nature genetics · 2026Pooled it
- Shared genetic architecture and pathways linking major depressive disorder and autoimmune thyroid disease: insights from common and rare variants.Translational psychiatry · 2026Article
- A multi-tissue mendelian randomization method based on eQTL data for mapping tissue-specific disease genes.BMC bioinformatics · 2026Article
- A unified framework for identification of cell-type-specific spatially variable genes in spatial transcriptomic studies.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Precision Target Discovery for Migraine: An Integrated GWAS-eQTL-PheWAS Pipeline.Molecules (Basel, Switzerland) · 2025Article
- Large-scale composite hypothesis testing procedure for omics data analyses.NAR genomics and bioinformatics · 2025Article
- DrFARM: identification of pleiotropic genetic variants in genome-wide association studies.Nature communications · 2025Article
- Integrative multi-omics QTL colocalization maps regulatory architecture in aging human brain.medRxiv : the preprint server for health sciences · 2025Article
- Leveraging pleiotropy for the improved treatment of psychiatric disorders.Molecular psychiatry · 2025Review
- The goldmine of GWAS summary statistics: a systematic review of methods and tools.BioData mining · 2024Article
- An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues.American journal of human genetics · 2024Article
- Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.Nature cardiovascular research · 2024Article
- An overview of detecting gene-trait associations by integrating GWAS summary statistics and eQTLs.Science China. Life sciences · 2024Review
- Integrative cross-omics and cross-context analysis elucidates molecular links underlying genetic effects on complex traits.Nature communications · 2024Article
- Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain.Nature genetics · 2023Article
- Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.Research square · 2023Article
- XMAP: Cross-population fine-mapping by leveraging genetic diversity and accounting for confounding bias.Nature communications · 2023Article
- Joint analysis of GWAS and multi-omics QTL summary statistics reveals a large fraction of GWAS signals shared with molecular phenotypes.Cell genomics · 2023Article
- Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations.eLife · 2023Article
- Identifying potential risk genes and pathways for neuropsychiatric and substance use disorders using intermediate molecular mediator information.Frontiers in genetics · 2023Article
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5 authors.
Funding
Abstract
To provide a comprehensive mechanistic interpretation of how known trait-associated SNPs affect complex traits, we propose a method, Primo, for integrative analysis of GWAS summary statistics with multiple sets of omics QTL summary statistics from different cellular conditions or studies. Primo examines association patterns of SNPs to complex and omics traits. In gene regions harboring known susceptibility loci, Primo performs conditional association analysis to account for linkage disequilibrium. Primo allows for unknown study heterogeneity and sample correlations. We show two applications using Primo to examine the molecular mechanisms of known susceptibility loci and to detect and interpret pleiotropic effects.
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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.