Use of polygenic risk scores for coronary heart disease in ancestrally diverse populations

O Dikilitas, DJ Schaid, C Tcheandjieu, SL Clarke… - Current cardiology …, 2022 - Springer
Purpose of review A polygenic risk score (PRS) is a measure of genetic liability to a disease
and is typically normally distributed in a population. Individuals in the upper tail of this …

[HTML][HTML] A mixed model reduces spurious genetic associations produced by population stratification in genome-wide association studies

J Shin, C Lee - Genomics, 2015 - Elsevier
Population stratification can produce spurious genetic associations in genome-wide
association studies (GWASs). Mixed model methodology has been regarded useful for …

[HTML][HTML] An overview of strategies for detecting genotype-phenotype associations across ancestrally diverse populations

I Simonin-Wilmer, P Orozco-del-Pino, DT Bishop… - Frontiers in …, 2021 - frontiersin.org
Genome-wide association studies (GWAS) have been very successful at identifying genetic
variants influencing a large number of traits. Although the great majority of these studies …

[PDF][PDF] Localizing components of shared transethnic genetic architecture of complex traits from GWAS summary data

H Shi, KS Burch, R Johnson, MK Freund… - The American Journal of …, 2020 - cell.com
Despite strong transethnic genetic correlations reported in the literature for many complex
traits, the non-transferability of polygenic risk scores across populations suggests the …

[HTML][HTML] Power and predictive accuracy of polygenic risk scores

F Dudbridge - PLoS genetics, 2013 - journals.plos.org
Polygenic scores have recently been used to summarise genetic effects among an
ensemble of markers that do not individually achieve significance in a large-scale …

[HTML][HTML] Current clinical use of polygenic scores will risk exacerbating health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada… - Nature …, 2019 - ncbi.nlm.nih.gov
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision
medicine. However, the major ethical and scientific challenge surrounding clinical …

The future of genomic studies must be globally representative: perspectives from PAGE

SA Bien, GL Wojcik, CJ Hodonsky… - Annual review of …, 2019 - annualreviews.org
The past decade has seen a technological revolution in human genetics that has
empowered population-level investigations into genetic associations with phenotypes …

The PhenX Toolkit: get the most from your measures

CM Hamilton, LC Strader, JG Pratt… - American journal of …, 2011 - academic.oup.com
The potential for genome-wide association studies to relate phenotypes to specific genetic
variation is greatly increased when data can be combined or compared across multiple …

[HTML][HTML] Homogeneous case subgroups increase power in genetic association studies

M Traylor, H Markus, CM Lewis - European Journal of Human Genetics, 2015 - nature.com
Genome-wide association studies of clinically defined cases against controls have
transformed our understanding of the genetic causes of many diseases. However, there are …

[PDF][PDF] Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring

E Petter, Y Ding, K Hou, A Bhattacharya… - The American Journal of …, 2023 - cell.com
Polygenic scores (PGSs) have emerged as a standard approach to predict phenotypes from
genotype data in a wide array of applications from socio-genomics to personalized …