[HTML][HTML] Of screening, stratification, and scores

BM Knoppers, A Bernier, P Granados Moreno… - Journal of Personalized …, 2021 - mdpi.com
Technological innovations including risk-stratification algorithms and large databases of
longitudinal population health data and genetic data are allowing us to develop a deeper …

Ethical concerns relating to genetic risk scores for suicide

A Docherty, B Kious, T Brown, L Francis… - American Journal of …, 2021 - Wiley Online Library
Genome‐wide association studies (GWAS) provide valuable information in research
contexts regarding genomic changes that contribute to risks for complex psychiatric …

[HTML][HTML] Construction and application of polygenic risk scores in autoimmune diseases

C Khunsriraksakul, H Markus, NJ Olsen… - Frontiers in …, 2022 - frontiersin.org
Genome-wide association studies (GWAS) have identified hundreds of genetic variants
associated with autoimmune diseases and provided unique mechanistic insights and …

[PDF][PDF] The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models

J Rozowsky, J Gao, B Borsari, YT Yang, T Galeev… - Cell, 2023 - cell.com
Understanding how genetic variants impact molecular phenotypes is a key goal of functional
genomics, currently hindered by reliance on a single haploid reference genome. Here, we …

[PDF][PDF] Leveraging the local genetic structure for trans-ancestry association mapping

J Xiao, M Cai, X Yu, X Hu, G Chen, X Wan… - The American Journal of …, 2022 - cell.com
Over the past two decades, genome-wide association studies (GWASs) have successfully
advanced our understanding of the genetic basis of complex traits. Despite the fruitful …

[PDF][PDF] Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits

HM Highland, GL Wojcik, M Graff, KK Nishimura… - The American Journal of …, 2022 - cell.com
One mechanism by which genetic factors influence complex traits and diseases is altering
gene expression. Direct measurement of gene expression in relevant tissues is rarely …

Monogenic and polygenic models of coronary artery disease

ED Muse, SF Chen, A Torkamani - Current cardiology reports, 2021 - Springer
Abstract Purpose of the Review Coronary artery disease (CAD) is a common disease
globally attributable to the interplay of complex genetic and lifestyle factors. Here, we review …

[PDF][PDF] Blood cell traits' GWAS loci colocalization with variation in PU. 1 genomic occupancy prioritizes causal noncoding regulatory variants

R Jeong, ML Bulyk - Cell Genomics, 2023 - cell.com
Genome-wide association studies (GWASs) have uncovered numerous trait-associated loci
across the human genome, most of which are located in noncoding regions, making …

[HTML][HTML] Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI

Q Sun, BT Rowland, J Chen, AV Mikhaylova… - Nature …, 2024 - nature.com
Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods focus
only on participants with distinct primary continental ancestry without accommodating …

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 …