A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release

DJ Thompson, D Wells, S Selzam, I Peneva, R Moore… - Plos one, 2024 - journals.plos.org
We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28
diseases and 25 quantitative traits that has been made available on the individuals in UKB …

Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers

L Forer, D Taliun, J LeFaive, AV Smith… - Nucleic Acids …, 2024 - academic.oup.com
Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of
traits and diseases by calculating the weighted sum of allele dosages for genetic variants …

To weight or not to weight? The effect of selection bias in 3 large electronic health record-linked biobanks and recommendations for practice

M Salvatore, R Kundu, X Shi, CR Friese… - Journal of the …, 2024 - academic.oup.com
Objectives To develop recommendations regarding the use of weights to reduce selection
bias for commonly performed analyses using electronic health record (EHR)-linked biobank …

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 …

Utility of polygenic scores for differentiating diabetes diagnosis among patients with atypical phenotypes of diabetes

LK Billings, Z Shi, J Wei, AS Rifkin… - The Journal of …, 2024 - academic.oup.com
Context Misclassification of diabetes type occurs in people with atypical presentations of
type 1 diabetes (T1D) or type 2 diabetes (T2D). Although current clinical guidelines suggest …

Evaluating the Efficacy of Type 2 Diabetes Polygenic Risk Scores in an Independent European Population

M Brīvība, I Atava, R Pečulis, I Elbere, L Ansone… - International Journal of …, 2024 - mdpi.com
Numerous type 2 diabetes (T2D) polygenic risk scores (PGSs) have been developed to
predict individuals' predisposition to the disease. An independent assessment and …

[HTML][HTML] Construction, evaluation, and AOP framework-based application of the EpPRS as a genetic surrogate for assessing environmental pollutants

S Chen, J Xin, Z Ding, L Zhao, S Ben, R Zheng… - Environment …, 2023 - Elsevier
Background Environmental pollutant measurement is essential for accurate health risk
assessment. However, the detection of humans' internal exposure to pollutants is cost …

Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits

D Tang, J Freudenberg, A Dahl - The American Journal of Human Genetics, 2023 - cell.com
Epistasis is central in many domains of biology, but it has not yet been proven useful for
understanding the etiology of complex traits. This is partly because complex-trait epistasis …

Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction

H Jung, HU Jung, EJ Baek, SY Kwon, JO Kang… - Communications …, 2024 - nature.com
Polygenic risk score (PRS) is useful for capturing an individual's genetic susceptibility.
However, previous studies have not fully exploited the potential of the risk factor PRS …

Single-versus multi-ancestry polygenic risk scores for CKD in black Americans

AC Jones, A Patki… - Journal of the …, 2024 - journals.lww.com
Background: Chronic kidney disease (CKD) is a risk factor for cardiovascular disease and
early death. Recently, polygenic risk scores (PRS) have been developed to quantify risk for …