Calculation of multiple risk profiles
for
23andme reports,using the PGS Catalog.
Visualize PRS calculation results by matched allele counts.
Clustering tools and visualizations will appear here.
Polygenic Risk Scores (PRS) estimate a person’s genetic risk for a trait or disease by combining the effects of many genetic variants across the genome. Each variant contributes a small effect, and these effects are weighted and summed to produce a single score that reflects relative genetic predisposition.
After loading weight and genomic files above, click to calculate PRS.
A prototype personal risk score calculator , created for research purposes, was developed to demonstrate how the PGS Catalog can be privately and readily applied to readily available direct-to-consumer genetic testing services, such as 23andMe. No software download, installation, or configuration is needed. The PRS web calculator matches individual PGS catalog entries with an individual's 23andMe genome data composed of 600k to 1.4 M single-nucleotide polymorphisms (SNPs). Beta coefficients provide researchers with a convenient assessment of risk associated with matched SNPs. This in-browser application was tested in a variety of personal devices, including smartphones, establishing the feasibility of privately calculating personal risk scores with up to a few thousand reference genetic variations and from the full 23andMe SNP data file (compressed or not).
The Personal Genome Project (PGP) is an open-access repository of human genomic data contributed by volunteer participants. The project provides publicly available genotype and sequencing datasets that can be used for research, education, and the development of genomic analysis tools.
The PGS Catalog is an open database of published polygenic scores (PGS), annotated with relevant metadata;including scoring files (variants, effect alleles/weights).