ArticleBioinformatics (Oxford, England)2021
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes.
Article in Bioinformatics (Oxford, England), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.Nature genetics · 2025Pooled it
- European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.Nature communications · 2023Pooled it
- Precision medicine for atherosclerotic cardiovascular disease: Integrative genomics maps risk loci and AI-predicted functional consequences.Clinical and translational medicine · 2026Article
- The shared genetic architecture underlying the autoimmune and cardiovascular disease: a multivariate genome-wide analysis.Cardiovascular diabetology · 2026Article
- Article
- Mapping the genetic landscape of suicide risk: Insights from genomic SEM.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Integrating genomic structural equation modeling and experimental validation to unravel the genetic basis of male genital lichen sclerosus.Frontiers in immunology · 2026Article
- Genomic structural equation modeling uncovers novel risk loci for bone metabolic disorders: cross-tissue genetic mechanisms and bone-brain axis regulation.BMC musculoskeletal disorders · 2025Article
- Genomic structural equation modeling decodes skeletal aging: novel loci discovery and multisystem genetic crosstalk.Journal of translational medicine · 2025Article
- Advancing genome-based precision medicine: a review on machine learning applications for rare genetic disorders.Briefings in bioinformatics · 2025Review
- Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches.Genome medicine · 2025Article
- Article
- Multivariate genetic architecture of poor sleep quality.Frontiers in neuroscience · 2025Article
- Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks.Scientific reports · 2024Article
- Multivariate genome-wide analysis of aging-related traits identifies novel loci and new drug targets for healthy aging.Nature aging · 2023Article
- An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.Nature genetics · 2021Article
- Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.Genome biology · 2021Article
- Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.Human molecular genetics · 2021Article
- The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Review
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3 authors.
Funding
Abstract
motivationGene prioritization at human GWAS loci is challenging due to linkage-disequilibrium and long-range gene regulatory mechanisms. However, identifying the causal gene is crucial to enable identification of potential drug targets and better understanding of molecular mechanisms. Mapping GWAS traits to known phenotypically relevant Mendelian disease genes near a locus is a promising approach to gene prioritization.
resultsWe present MendelVar, a comprehensive tool that integrates knowledge from four databases on Mendelian disease genes with enrichment testing for a range of associated functional annotations such as Human Phenotype Ontology, Disease Ontology and variants from ClinVar. This open web-based platform enables users to strengthen the case for causal importance of phenotypically matched candidate genes at GWAS loci. We demonstrate the use of MendelVar in post-GWAS gene annotation for type 1 diabetes, type 2 diabetes, blood lipids and atopic dermatitis. AVAILABILITY AND IMPLEMENTATION: MendelVar is freely available at https://mendelvar.mrcieu.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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