Recent advances in polygenic scores: translation, equitability, methods and FAIR tools

R Xiang, M Kelemen, Y Xu, LW Harris, H Parkinson… - Genome Medicine, 2024 - Springer
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …

Precision intervention for prostate cancer: re-evaluating who is at risk

A Papachristodoulou, C Abate-Shen - Cancer letters, 2022 - Elsevier
The vast majority of new prostate cancer diagnoses are low-grade tumors that are monitored
by active surveillance rather than undergoing immediate treatment. However, a subset of …

Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments

GB Busby, S Kulm, A Bolli, J Kintzle… - Nature …, 2023 - nature.com
Clinical implementation of new prediction models requires evaluation of their utility in a
broad range of intended use populations. Here we develop and validate ancestry-specific …

Incorporating alternative polygenic risk scores into the BOADICEA breast cancer risk prediction model

N Mavaddat, L Ficorella, T Carver, A Lee… - … Biomarkers & Prevention, 2023 - AACR
Background: The multifactorial risk prediction model BOADICEA enables identification of
women at higher or lower risk of developing breast cancer. BOADICEA models genetic …

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

JM Keaton, Z Kamali, T Xie, A Vaez, A Williams… - Nature …, 2024 - nature.com
Hypertension affects more than one billion people worldwide. Here we identify 113 novel
loci, reporting a total of 2,103 independent genetic signals (P< 5× 10− 8) from the largest …

Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks

LG Fritsche, K Nam, J Du, R Kundu, M Salvatore… - PLoS …, 2023 - journals.plos.org
Objective To overcome the limitations associated with the collection and curation of COVID-
19 outcome data in biobanks, this study proposes the use of polygenic risk scores (PRS) as …

Racial disparity in the genomics of precision oncology of prostate cancer

T Le, PS Rojas, M Fakunle, FW Huang - Cancer Reports, 2023 - Wiley Online Library
Background Significant racial disparities in prostate cancer incidence and mortality have
been reported between African American Men (AAM), who are at increased risk for prostate …

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 …

ExPRSweb: An online repository with polygenic risk scores for common health-related exposures

Y Ma, S Patil, X Zhou, B Mukherjee… - The American Journal of …, 2022 - cell.com
Complex traits are influenced by genetic risk factors, lifestyle, and environmental variables,
so-called exposures. Some exposures, eg, smoking or lipid levels, have common genetic …

Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy

ME Garrett, KL Soldano, KN Erwin, Y Zhang… - Blood …, 2023 - ashpublications.org
Sickle cell disease nephropathy (SCDN), a common SCD complication, is strongly
associated with mortality. Polygenic risk scores calculated from recent transethnic meta …