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

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - MedRxiv, 2021 - medrxiv.org
Polygenic risk scores (PRS) based on European training data suffer reduced accuracy in
non-European target populations, exacerbating health disparities. This loss of accuracy …

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

FE Dewey, R Chen, SP Cordero, KE Ormond… - PLoS …, 2011 - journals.plos.org
Whole-genome sequencing harbors unprecedented potential for characterization of
individual and family genetic variation. Here, we develop a novel synthetic human reference …

Population stratification in genetic association studies

JN Hellwege, JM Keaton, A Giri, X Gao… - Current protocols in …, 2017 - Wiley Online Library
Population stratification (PS) is a primary consideration in studies of genetic determinants of
human traits. Failure to control for PS may lead to confounding, causing a study to fail for …

Multiple phenotype association tests using summary statistics in genome‐wide association studies

Z Liu, X Lin - Biometrics, 2018 - Wiley Online Library
We study in this article jointly testing the associations of a genetic variant with correlated
multiple phenotypes using the summary statistics of individual phenotype analysis from …

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

CB de Villiers, M Kroese, S Moorthie - Journal of medical genetics, 2020 - jmg.bmj.com
The use of genomic information to better understand and prevent common complex
diseases has been an ongoing goal of genetic research. Over the past few years, research …

[HTML][HTML] Multiethnic polygenic risk prediction in diverse populations through transfer learning

P Tian, TH Chan, YF Wang, W Yang, G Yin… - Frontiers in …, 2022 - frontiersin.org
Polygenic risk scores (PRS) leverage the genetic contribution of an individual's genotype to
a complex trait by estimating disease risk. Traditional PRS prediction methods are …

Race and ethnicity stratification for polygenic risk score analyses may mask disparities in Hispanics

SL Clarke, RDL Huang, AT Hilliard, C Tcheandjieu… - Circulation, 2022 - Am Heart Assoc
Polygenic risk scores (PRSs) are central to the development of precision medicine.
However, decades of Euro-centric genomics research have paved the way for disparities in …

Validity of polygenic risk scores: are we measuring what we think we are?

ACJW Janssens - Human molecular genetics, 2019 - academic.oup.com
Polygenic risk scores (PRSs) have become the standard for quantifying genetic liability in
the prediction of disease risks. PRSs are generally constructed as weighted sum scores of …

Conditional analysis of multiple quantitative traits based on marginal GWAS summary statistics

Y Deng, W Pan - Genetic epidemiology, 2017 - Wiley Online Library
There has been an increasing interest in joint association testing of multiple traits for
possible pleiotropic effects. However, even in the presence of pleiotropy, most of the existing …

Common genetic variants and health outcomes appear geographically structured in the UK Biobank sample: old concerns returning and their implications

S Haworth, R Mitchell, L Corbin, KH Wade, T Dudding… - BioRxiv, 2018 - biorxiv.org
Introductory paragraph The inclusion of genetic data in large studies has enabled the
discovery of genetic contributions to complex traits and their application in applied analyses …