Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2023 - 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 …

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 …

The power of genetic diversity in genome-wide association studies of lipids

SE Graham, SL Clarke, KHH Wu, S Kanoni, GJM Zajac… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use. Despite …

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 …

False discovery rate control in genome-wide association studies with population structure

M Sesia, S Bates, E Candès… - Proceedings of the …, 2021 - National Acad Sciences
We present a comprehensive statistical framework to analyze data from genome-wide
association studies of polygenic traits, producing interpretable findings while controlling the …

Transferability of genetic risk scores in African populations

AB Kamiza, SM Toure, M Vujkovic, T Machipisa… - Nature Medicine, 2022 - nature.com
The poor transferability of genetic risk scores (GRSs) derived from European ancestry data
in diverse populations is a cause of concern. We set out to evaluate whether GRSs derived …

[HTML][HTML] Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries

Y Liang, M Pividori, A Manichaikul… - Genome …, 2022 - genomebiology.biomedcentral.com
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 based on individuals …

Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations

M Elgart, G Lyons, S Romero-Brufau… - Communications …, 2022 - nature.com
Polygenic risk scores (PRS) are commonly used to quantify the inherited susceptibility for a
trait, yet they fail to account for non-linear and interaction effects between single nucleotide …

Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage

GP Page, T Kanias, YJ Guo, MC Lanteri… - The Journal of …, 2021 - Am Soc Clin Investig
Background The evolutionary pressure of endemic malaria and other erythrocytic pathogens
has shaped variation in genes encoding erythrocyte structural and functional proteins …