Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

KL Bolton, RN Ptashkin, T Gao, L Braunstein… - Nature …, 2020 - nature.com
Acquired mutations are pervasive across normal tissues. However, understanding of the
processes that drive transformation of certain clones to cancer is limited. Here we study this …

Personalized early detection and prevention of breast cancer: ENVISION consensus statement

N Pashayan, AC Antoniou, U Ivanus… - Nature reviews Clinical …, 2020 - nature.com
Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …

Genetic prediction of complex traits with polygenic scores: a statistical review

Y Ma, X Zhou - Trends in Genetics, 2021 - cell.com
Accurate genetic prediction of complex traits can facilitate disease screening, improve early
intervention, and aid in the development of personalized medicine. Genetic prediction of …

Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study

X Yang, M Eriksson, K Czene, A Lee, G Leslie… - Journal of medical …, 2022 - jmg.bmj.com
Background The multifactorial Breast and Ovarian Analysis of Disease Incidence and
Carrier Estimation Algorithm (BOADICEA) breast cancer risk prediction model has been …

Electronic health records and polygenic risk scores for predicting disease risk

R Li, Y Chen, MD Ritchie, JH Moore - Nature Reviews Genetics, 2020 - nature.com
Accurate prediction of disease risk based on the genetic make-up of an individual is
essential for effective prevention and personalized treatment. Nevertheless, to date …

Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups

O Dikilitas, DJ Schaid, ML Kosel, RJ Carroll… - The American Journal of …, 2020 - cell.com
Because polygenic risk scores (PRSs) for coronary heart disease (CHD) are derived from
mainly European ancestry (EA) cohorts, their validity in African ancestry (AA) and Hispanic …

A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening

YQ He, TM Wang, M Ji, ZM Mai, M Tang… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases,
optimizing treatment, and predicting survival outcomes. Here, we construct and validate a …

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

YD Zhang, AN Hurson, H Zhang, PP Choudhury… - Nature …, 2020 - nature.com
Genome-wide association studies (GWAS) have led to the identification of hundreds of
susceptibility loci across cancers, but the impact of further studies remains uncertain. Here …