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

Maria Sobczyk | Zendy; Tom R. Gaunt | Zendy; Lavinia Paternoster | Zendy

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

Author(s) -

Maria Sobczyk,

Tom R. Gaunt,

Lavinia Paternoster

Publication year - 2021

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btaa1096

Subject(s) - mendelian inheritance , genome wide association study , phenotype , gene , genetics , prioritization , biology , polygene , computational biology , quantitative trait locus , single nucleotide polymorphism , genotype , management science , economics

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 prioritization.

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