Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course

M Bentz, A Saperstein, SM Fullerton, JK Shim… - Human Genetics and …, 2024 - cell.com
Responding to calls for human genomics to shift away from the use of race, genomic
investigators are coalescing around the possibility of using genetic ancestry. This shift has …

[HTML][HTML] Preferences for a polygenic test to estimate cancer risk in a general Australian population

B Venning, S Saya, RDA Lourenco, DJ Street… - Genetics in …, 2022 - Elsevier
Purpose There is significant interest in the use of polygenic risk score (PRS) tests to improve
cancer risk assessment and stratified prevention. Our current understanding of preferences …

Associations between polygenic risk score and covid-19 susceptibility and severity across ethnic groups: UK Biobank analysis

R Farooqi, JS Kooner, W Zhang - BMC Medical Genomics, 2023 - Springer
Background COVID-19 manifests with huge heterogeneity in susceptibility and severity
outcomes. UK Black Asian and Minority Ethnic (BAME) groups have demonstrated …

Harnessing whole genome polygenic risk scores to stratify individuals based on cardiometabolic Risk factors and biomarkers at age 10 in the lifecourse—Brief report

TG Richardson, K O'Nunain, CL Relton… - … , and vascular biology, 2022 - Am Heart Assoc
Background: In this study, we investigated the capability of polygenic risk scores to stratify a
cohort of young individuals into risk deciles based on 10 different cardiovascular traits and …

A simulation study for multifactorial genetic disorders to quantify the impact of polygenic risk scores on critical illness insurance

J Zhao, M Salter-Townshend, A O'Hagan - European Actuarial Journal, 2023 - Springer
With advances in genetic research, the understanding of the genetic structure of disease
and the ability to predict disease risk have been enhanced. Polygenic risk scores (PRS) …

Focused strategies for defining the genetic architecture of congenital heart defects

LJ Martin, DW Benson - Genes, 2021 - mdpi.com
Congenital heart defects (CHD) are malformations present at birth that occur during heart
development. Increasing evidence supports a genetic origin of CHD, but in the process …

[PDF][PDF] Spectrum 10K and the questionable past, present, and future of genetic autism research

HM Natri - Preprint]. ResearchGate. https://doi. org/10.13140/RG, 2021 - researchgate.net
In September 2021, a large-scale autism genomics study Spectrum 10K was paused in
response to feedback from the autistic community. The study is now under review by …

Ensembled best subset selection using summary statistics for polygenic risk prediction

T Chen, H Zhang, R Mazumder, X Lin - bioRxiv, 2023 - biorxiv.org
Polygenic risk scores (PRS) enhance population risk stratification and advance
personalized medicine, yet existing methods face a tradeoff between predictive power and …

How group structure impacts the numbers at risk for coronary artery disease: polygenic risk scores and nongenetic risk factors in the UK Biobank cohort

J Zhao, A O'Hagan, M Salter-Townshend - Genetics, 2024 - academic.oup.com
Abstract The UK Biobank (UKB) is a large cohort study that recruited over 500,000 British
participants aged 40–69 in 2006–2010 at 22 assessment centers from across the United …

Stroke genetics and how it Informs novel drug discovery

J Valančienė, K Melaika, A Šliachtenko… - Expert Opinion on …, 2024 - Taylor & Francis
Introduction Stroke is one of the main causes of death and disability worldwide.
Nevertheless, despite the global burden of this disease, our understanding is limited and …