Genepi PGS Platform
Main Investigators
Assistant Professor of Genome Informatics
+43 512 9003 70562
lukas.forer@i-med.ac.at
Professor of Digital and Computational Genomics
+43 512 9003 70579
sebastian.schoenherr@i-med.ac.at
Other Investigators
About
Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of traits and diseases by calculating the weighted sum of allele dosages for genetic variants associated with the trait or disease in question. Present approaches for calculating PGS from genotypes are often inefficient and labor-intensive, limiting transferability into clinical applications. Genepi PGS Platform is an extension of the Michigan Imputation Server designed to automate a standardized calculation of polygenic scores based on imputed genotypes. This extends the widely used Michigan Imputation Server with new functionality, bringing the simplicity and efficiency of modern imputation to the PGS field. The service currently supports over 4,200 published polygenic scores from publicly available repositories and provides extensive quality control, including ancestry estimation to report population stratification. An interactive report empowers users to screen and compare thousands of scores in a fast and intuitive way.
Availability
pgs-calc is available as a web-service or on GitHub for local usage.
Publications
Coassin S, Chemello K, Khantalin I, Forer L, Döttelmayer P, Schönherr S, Grüneis R, Chong-Hong-Fong C, Nativel B, Ramin-Mangata S, Gallo A, Roche M, Muelegger B, Gieger C, Peters A, Zschocke J, Marimoutou C, Meilhac O, Lamina C, Kronenberg F, Blanchard V, Lambert G: Genome-wide characterization of a highly penetrant form of hyperlipoprotein(a)emia associated with genetically elevated cardiovascular risk. Circ. Genom. Precis. Med. 15:e003489, 2022. PMID: 35133173 Journal Article