Inclusion of variants discovered from diverse populations improves polygenic risk score transferability
TB Cavazos, JS Witte - Human Genetics and Genomics Advances, 2021 - cell.com
The majority of polygenic risk scores (PRSs) have been developed and optimized in
individuals of European ancestry and may have limited generalizability across other …
individuals of European ancestry and may have limited generalizability across other …
Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
The construction of cross-population polygenic risk scores using transfer learning
As most existing genome-wide association studies (GWASs) were conducted in European-
ancestry cohorts, and as the existing polygenic risk score (PRS) models have limited …
ancestry cohorts, and as the existing polygenic risk score (PRS) models have limited …
BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability
Here we present BridgePRS, a novel Bayesian polygenic risk score (PRS) method that
leverages shared genetic effects across ancestries to increase PRS portability. We evaluate …
leverages shared genetic effects across ancestries to increase PRS portability. We evaluate …
Clinical use of current polygenic risk scores may exacerbate health disparities
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …
medicine. However, the major ethical and scientific challenge surrounding clinical …
Polygenic risk scores: from research tools to clinical instruments
Genome-wide association studies have shown unequivocally that common complex
disorders have a polygenic genetic architecture and have enabled researchers to identify …
disorders have a polygenic genetic architecture and have enabled researchers to identify …
Analysis of polygenic risk score usage and performance in diverse human populations
A historical tendency to use European ancestry samples hinders medical genetics research,
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …
Tutorial: a guide to performing polygenic risk score analyses
SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …
genetic liability to a trait or disease, calculated according to their genotype profile and …
Low and differential polygenic score generalizability among African populations due largely to genetic diversity
African populations are vastly underrepresented in genetic studies but have the most
genetic variation and face wide-ranging environmental exposures globally. Because …
genetic variation and face wide-ranging environmental exposures globally. Because …
Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries
Background Polygenic risk scores (PRS) are valuable to translate the results of genome-
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …
wide association studies (GWAS) into clinical practice. To date, most GWAS have been …