Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

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 .

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Publication Details

Journal
Genome Medicine
Published
2024-11-06
DOI
https://doi.org/10.1186/s13073-024-01398-1
Citations
12
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
6.60

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article

Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

Louise Thompson, Elena Cibrián–Uhalte, T. Michael Yates, Morad Ansari et al.
12 citations
Genome Medicine
Genomics and Rare Diseases
6.60
article

Curating genomic disease-gene relationships with Gene2Phenotype (G2P)

Louise Thompson, Elena Cibrián–Uhalte, T. Michael Yates, Morad Ansari, Sarah Hunt, Helen V. Firth, Caroline F. Wright, Rachel J. Hobson, Joseph A. Marsh
article en
12 citations

Abstract

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 .

Genome MedicineVol. 16(1)
European Bioinformatics Institute (GB), University of Exeter (GB), Western General Hospital (GB), Cambridge University Hospitals NHS Foundation Trust (GB), Wellcome Sanger Institute (GB), Queen Elizabeth University Hospital (GB), Institute of Genetics and Cancer (GB), University of Edinburgh (GB)
UK Research and Innovation, Imperial College London
Openalex Percentile: Top 3%
Genomics and Rare Diseases
6.60
DOIOpen Access PDFOpenAlex
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Curating genomic disease-gene relationships with Gene2Phenotype (G2P) — Louise Thompson, Elena Cibrián–Uhalte, et al. · Genome Medicine (2024) | TGRS Research Map | TGRS