Article
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
Genome medicine - 6 Nov 2024
Yates T Michael, Ansari Morad, Thompson Louise, Hunt Sarah E, Uhalte Elena Cibrian, Hobson Rachel J, Marsh Joseph A, Wright Caroline F, Firth Helen V
Abstract excerpt
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here, we present a structured curation process for Gene2Phenotype (G2P). This draws on multiple lines of clinical, bioinformatic and functional evidence. The process...
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