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 …

Mendelian randomization as a tool for cardiovascular research: a review

MG Levin, S Burgess - JAMA cardiology, 2024 - jamanetwork.com
Importance Mendelian randomization (MR) is a statistical approach that has become
increasingly popular in the field of cardiovascular disease research. It offers a way to infer …

[HTML][HTML] Genomic data in the All of Us research program

All of Us Research Program Genomics Investigators - Nature, 2024 - ncbi.nlm.nih.gov
Comprehensively mapping the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics 1–4. The All of Us Research Program is …

Strategies for the genomic analysis of admixed populations

T Tan, EG Atkinson - Annual review of biomedical data science, 2023 - annualreviews.org
Admixed populations constitute a large portion of global human genetic diversity, yet they
are often left out of genomics analyses. This exclusion is problematic, as it leads to …

Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry

KJM Benjamin, Q Chen, NJ Eagles… - Nature …, 2024 - nature.com
Ancestral differences in genomic variation affect the regulation of gene expression; however,
most gene expression studies have been limited to European ancestry samples or adjusted …

[PDF][PDF] Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology

Y Wang, M Kanai, T Tan, M Kamariza, K Tsuo, K Yuan… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) developed from multi-ancestry genome-wide association
studies (GWASs), PRS multi, hold promise for improving PRS accuracy and generalizability …

Genetic control of DNA methylation is largely shared across European and East Asian populations

AA Hatton, FF Cheng, T Lin, RJ Shen, J Chen… - Nature …, 2024 - nature.com
DNA methylation is an ideal trait to study the extent of the shared genetic control across
ancestries, effectively providing hundreds of thousands of model molecular traits with large …

Leveraging fine-scale population structure reveals conservation in genetic effect sizes between human populations across a range of human phenotypes

S Hu, LAF Ferreira, S Shi, G Hellenthal, J Marchini… - bioRxiv, 2023 - biorxiv.org
An understanding of genetic differences between populations is essential for avoiding
confounding in genome-wide association studies (GWAS) and understanding the evolution …

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

KJ Karczewski, R Gupta, M Kanai, W Lu, K Tsuo… - medRxiv, 2024 - medrxiv.org
Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide
association studies that elucidate genetic etiology of complex traits. However, individuals …

[HTML][HTML] Genetic and environmental contributions to ancestry differences in gene expression in the human brain

KJM Benjamin, Q Chen, NJ Eagles, LA Huuki-Myers… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Ancestral differences in genomic variation are determining factors in gene regulation;
however, most gene expression studies have been limited to European ancestry samples or …