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Impute.me
Impute.me was an open-source non-profit web application that allowed members of the public to use their data from direct-to-consumer (DTC) genetic tests (including tests from 23andMe and Ancestry.com) to calculate polygenic risk scores (PRS) for complex diseases and cognitive and personality traits. In July 2022, Lasse Folkerson, initiator and operator of impute.me, took the website offline. Impute.me calculates PRSs, which are used to estimate the risk of developing complex diseases from the combined effects of numerous common single nucleotide polymorphisms In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in ... in the human genome. It is intended for use by people who have obtained genetics data from a Genetic testing#Direct-to-consumer genetic testing, direct to consumer genetic t ...
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Polygenic Risk Score
In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score (PRS or PR score) or genetic risk score. The score reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. It gives an estimate of how likely an individual is to have a given trait based only on genetics, without taking environmental factors into account; and it is typically calculated as a weighted sum of trait-associated alleles. Recent progress in genetics has developed polygenic predictors of complex human traits, including risk for many important Genetic disorder#Multifactorial and polygenic .28complex.29 disorders, complex diseases that are typically affected by many genetic variants, each of which confers a small effect on overall r ...
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