[PDF][PDF] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in
Europeans, and their transferability to other populations is dependent on many factors (eg …

[PDF][PDF] The omnigenic model and polygenic prediction of complex traits

I Mathieson - The American Journal of Human Genetics, 2021 - cell.com
The omnigenic model was proposed as a framework to understand the highly polygenic
architecture of complex traits revealed by genome-wide association studies (GWASs). I …

[HTML][HTML] Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals

QQ Huang, N Sallah, D Dunca, B Trivedi… - Nature …, 2022 - nature.com
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 …

Demographic history mediates the effect of stratification on polygenic scores

AA Zaidi, I Mathieson - Elife, 2020 - elifesciences.org
Population stratification continues to bias the results of genome-wide association studies
(GWAS). When these results are used to construct polygenic scores, even subtle biases can …

[PDF][PDF] Genome-wide risk prediction of common diseases across ancestries in one million people

N Mars, S Kerminen, YCA Feng, M Kanai, K Läll… - Cell Genomics, 2022 - cell.com
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …

[HTML][HTML] Lottery, luck, or legacy. A review of “The Genetic Lottery: Why DNA matters for social equality”

G Coop, M Przeworski - Evolution; International Journal of Organic …, 2022 - ncbi.nlm.nih.gov
Lottery, luck, or legacy. A review of “The Genetic Lottery: Why DNA matters for social equality” -
PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI …

Polygenic scores in cancer

X Yang, S Kar, AC Antoniou, PDP Pharoah - Nature reviews Cancer, 2023 - nature.com
Since the publication of the first genome-wide association study for cancer in 2007,
thousands of common alleles that are associated with the risk of cancer have been …

Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification

Y Ding, K Hou, KS Burch, S Lapinska, F Privé… - Nature …, 2022 - nature.com
Although the cohort-level accuracy of polygenic risk scores (PRSs)—estimates of genetic
value at the individual level—has been widely assessed, uncertainty in PRSs remains …

Importance of including non-European populations in large human genetic studies to enhance precision medicine

D Ju, D Hui, DA Hammond, A Wonkam… - Annual review of …, 2022 - annualreviews.org
One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

[PDF][PDF] 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 …