Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

• Published in: Genome medicine Vol. 16; no. 1; pp. 127 - 8
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 06.11.2024; BioMed Central; BMC
• Subjects: Anopheles; Computational Biology - methods; Databases, Genetic; Disease mechanism; Diseases; Gene curation; Genes; Genetic Association Studies - methods; Genetic Diseases, Inborn - genetics; Genetic Predisposition to Disease; Genomic variant filtering; Genomics - methods; Humans; Method; Phenotype; Disease mechanism; Genomic variant filtering; Gene curation
• ISSN: 1756-994X; 1756-994X
• DOI: 10.1186/s13073-024-01398-1

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 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 development of targeted therapeutics. G2P: www.ebi.ac.uk/gene2phenotype .