Sobczyk M K1, Gaunt T R1, Paternoster L1. 1. MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, BS8 2BN, UK.
Abstract
MOTIVATION: Gene prioritisation 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 prioritisation. RESULTS: We 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: MendelVar is freely available at https://mendelvar.mrcieu.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
MOTIVATION: Gene prioritisation 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 prioritisation. RESULTS: We 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: MendelVar is freely available at https://mendelvar.mrcieu.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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