Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Development of a clinical polygenic risk score assay and reporting workflow

L Hao, P Kraft, GF Berriz, ED Hynes, C Koch… - Nature medicine, 2022 - nature.com
Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

K Ishigaki, S Sakaue, C Terao, Y Luo, K Sonehara… - Nature …, 2022 - nature.com
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …

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 …

Clinical utility of polygenic risk scores for coronary artery disease

D Klarin, P Natarajan - Nature Reviews Cardiology, 2022 - nature.com
Over the past decade, substantial progress has been made in the discovery of alleles
contributing to the risk of coronary artery disease. In addition to providing causal insights into …

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 …

[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 …

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 …