Curating genomic disease-gene relationships with Gene2Phenotype

Abstract

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 functional evidence. The process utilises and extends existing terminologies, allows for precise definition of the molecular basis of disease, and confidence levels to be attributed to a given gene-disease assertion. In-depth disease curation using this process will prove useful in applications including in diagnostics, research and the development of targeted therapeutics.