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 …
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Nature medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …
genome to estimate the risk of a disease or disease-related trait for an individual. The …
A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
existing genome-wide association studies (GWAS) have been conducted predominantly in …
A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …
performance in non-European populations raise concerns about clinical applications and …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations
T Ge, MR Irvin, A Patki, V Srinivasasainagendra… - Genome Medicine, 2022 - Springer
Abstract Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic
and environmental risk factors that disproportionately afflicts communities of color …
and environmental risk factors that disproportionately afflicts communities of color …
Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder
Biobanks often contain several phenotypes relevant to diseases such as major depressive
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
disorder (MDD), with partly distinct genetic architectures. Researchers face complex …
Calibrated prediction intervals for polygenic scores across diverse contexts
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …
range of fields. We show that PGS performance varies broadly across contexts and …
Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals
Abstract Individuals with South Asian ancestry have a higher risk of heart disease than other
groups but have been largely excluded from genetic research. Using data from 22,000 …
groups but have been largely excluded from genetic research. Using data from 22,000 …