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Article

MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes.

Bioinformatics (Oxford, England) - 9 Apr 2021

Sobczyk M K, Gaunt T R, Paternoster L

Abstract excerpt

MOTIVATION: Gene 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33836063
DOI: 10.1093/bioinformatics/btaa1096
PMCID: PMC8034535

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