Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
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 …

Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association

JW O'Sullivan, S Raghavan, C Marquez-Luna… - Circulation, 2022 - Am Heart Assoc
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …

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 …

Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals

K Hou, Y Ding, Z Xu, Y Wu, A Bhattacharya, R Mester… - Nature …, 2023 - nature.com
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …

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 …

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 …

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 …

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 …

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 …