Polygenic Scores API
Polygenic (risk) scores as an API — powered by the NHGRI-EBI PGS Catalog, the open database of published polygenic scores: weighted combinations of genetic variants used to estimate a person's genetic predisposition to a trait or disease. Search traits by name to find their ontology ids, list every polygenic score developed for a trait, and read a score's full metadata — the reported and mapped (EFO/MONDO) traits, the number of variants in the score, the development method, genome build, the ancestry distribution of the samples it was built and evaluated on, the publication behind it (title, journal, date, PubMed id), the release date, license and a direct link to the scoring file. From breast cancer and coronary artery disease to type 2 diabetes and BMI, it is ideal for statistical genetics, genomics, risk-prediction research and bioinformatics tools. A polygenic-score / genetic-risk-prediction resource — distinct from single-variant association studies (GWAS Catalog), population allele frequencies (gnomAD) and clinical variant interpretation (ClinVar). Open data from the NHGRI-EBI PGS Catalog (CC BY 4.0).
api.oanor.com/pgs-api
