ArticleNature communications2018
Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed.
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- Scalable nonparametric clustering with unified marker gene selection for single-cell RNA-seq data.Cell reports methods · 2026Article
- Scalable nonparametric clustering with unified marker gene selection for single-cell RNA-seq data.bioRxiv : the preprint server for biology · 2025Article
- Identification of replicative aging and inflammatory aging signatures via whole-genome CRISPRi screens.Genome biology · 2025Article
- Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproduction and infertility.Theranostics · 2025Article
- Investigating the Causal Effects of Exercise-Induced Genes on Sarcopenia.International journal of molecular sciences · 2024Article
- A comprehensive framework for trans-ancestry pathway analysis using GWAS summary data from diverse populations.PLoS genetics · 2024Article
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- Improved functional mapping of complex trait heritability with GSA-MiXeR implicates biologically specific gene sets.Nature genetics · 2024Article
- Genetic effects of sequence-conserved enhancer-like elements on human complex traits.Genome biology · 2024Article
- Evaluating methods for integrating single-cell data and genetics to understand inflammatory disease complexity.Frontiers in immunology · 2024Article
- Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies.Nature genetics · 2023Article
- Fast and accurate Bayesian polygenic risk modeling with variational inference.American journal of human genetics · 2023Article
- Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics.Nature genetics · 2022Article
- Organization of gene programs revealed by unsupervised analysis of diverse gene-trait associations.Nucleic acids research · 2022Article
- Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.Nature medicine · 2022Article
- SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease.Cell genomics · 2022Article
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2 authors.
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Abstract
Genome-wide association studies (GWAS) aim to identify genetic factors associated with phenotypes. Standard analyses test variants for associations individually. However, variant-level associations are hard to identify and can be difficult to interpret biologically. Enrichment analyses help address both problems by targeting sets of biologically related variants. Here we introduce a new model-based enrichment method that requires only GWAS summary statistics. Applying this method to interrogate 4,026 gene sets in 31 human phenotypes identifies many previously-unreported enrichments, including enrichments of endochondral ossification pathway for height, NFAT-dependent transcription pathway for rheumatoid arthritis, brain-related genes for coronary artery disease, and liver-related genes for Alzheimer's disease. A key feature of our method is that inferred enrichments automatically help identify new trait-associated genes. For example, accounting for enrichment in lipid transport genes highlights association between MTTP and low-density lipoprotein levels, whereas conventional analyses of the same data found no significant variants near this gene.
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