Article

Curating genomic disease-gene relationships with Gene2Phenotype

2024-02-28

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 is variable and requires robust critical evaluation for diagnostic use. Here, we present a structured curation process for the Gene2Phenotype (G2P) project. This draws on multiple lines of clinical, bioinformatic and functio...

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Literature Corpus work: 88614f65-b788-558a-9841-82387e18feee
DOI: 10.1101/2024.02.26.24303357

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