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

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...

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Dettagli Bibliografici
Pubblicato in:Bioinformatics
Autori principali: Sobczyk, M K, Gaunt, T R, Paternoster, L
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8034535/
https://ncbi.nlm.nih.gov/pubmed/33836063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa1096
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