Aim 1

The Genotype-to-Phenotype database

For genomic information to have predictive power, there is a need for a thorough understanding of the disease-causing genes in the human genome. In aim 1 we are generating comprehensive, robust genome-wide information on the association between genes and human disease.

The genotype-to-phenotype (G2P) database provides detailed information on which particular genotypes lead to which disease phenotypes. The database integrates published data on genes, variants and phenotypes to give a detailed view on the clinical implication of observed genotypes. The open access resource initially will cover representative areas of medicine with the greatest need for genetic diagnosis. Currently it hosts datasets on developmental disorders, cancer, eye and skin, with curation efforts now focusing on cardiac phenotypes and diabetes. Browsing and dissemination of these data are enabled through the public interface.

Recognising the need for curated gene databases, we are founding partners in the Gene Curation Coalition (GenCC). Members of GenCC work together to ensure gene-level curated resources are comparable and interoperable, and that standardised terms are used for mode of inheritance, mechanism of pathogenicity and allelic requirement.

The TGMI established an important link with the HUGO Gene Nomenclature Committee (HGNC) to ensure gene names are clinically appropriate and consistently used, which is essential for clear communication and clinical reporting.

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