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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8034535/ https://www.ncbi.nlm.nih.gov/pubmed/33836063 http://dx.doi.org/10.1093/bioinformatics/btaa1096 |