Article

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

2020-04-20

Abstract excerpt

Gene prioritisation at GWAS loci necessities careful assembly and examination of different types of molecular evidence to arrive at a set of plausible candidates. In many human traits, common small-effect mutations may subtly dysregulate the function of the very same genes which are impacted by rare, large-effect mutations causing Mendelian disease of similar phenotype. However, information on gene-Mendelian disea...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ec24585b-b047-59bf-bbbe-8e81c3063e2d
DOI: 10.1101/2020.04.20.050237

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genesDOI 10.1101/2020.04.20.050237Read

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

Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traitsSemantic proximity Read

From genetic associations to genes: methods, applications, and challenges.Semantic proximity Read

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.Semantic proximity Read

Prioritizing GWAS results: A review of statistical methods and recommendations for their application.Semantic proximity Read

Open Targets Genetics: An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated lociSemantic proximity Read

Simplifying causal gene identification in GWAS loci.Semantic proximity Read

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Semantic proximity Read

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Semantic proximity Read

Specificity, length and luck drive gene rankings in association studies.Semantic proximity Read

Settling the score: variant prioritization and Mendelian disease.Semantic proximity Read

ProGeM: A framework for the prioritisation of candidate causal genes at molecular quantitative trait lociSemantic proximity Read