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 …

A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease

AP Patel, M Wang, Y Ruan, S Koyama, SL Clarke… - Nature Medicine, 2023 - nature.com
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

NJ Lennon, LC Kottyan, C Kachulis, NS Abul-Husn… - Nature medicine, 2024 - nature.com
Polygenic risk scores (PRSs) have improved in predictive performance, but several
challenges remain to be addressed before PRSs can be implemented in the clinic, including …

Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization

SA Lambert, B Wingfield, JT Gibson, L Gil… - Nature Genetics, 2024 - nature.com
Polygenic scores (PGSs) have transformed human genetic research and have numerous
potential clinical applications. Here we present a series of recent enhancements to the PGS …

Genetic and molecular architecture of complex traits

T Lappalainen, YI Li, S Ramachandran, A Gusev - Cell, 2024 - cell.com
Human genetics has emerged as one of the most dynamic areas of biology, with a
broadening societal impact. In this review, we discuss recent achievements, ongoing efforts …

Polygenic scores in cancer

X Yang, S Kar, AC Antoniou, PDP Pharoah - Nature reviews Cancer, 2023 - nature.com
Since the publication of the first genome-wide association study for cancer in 2007,
thousands of common alleles that are associated with the risk of cancer have been …

Promoting equity in polygenic risk assessment through global collaboration

IJ Kullo - Nature Genetics, 2024 - nature.com
The long delay before genomic technologies become available in low-and middle-income
countries is a concern from both scientific and ethical standpoints. Polygenic risk scores …

Genomic landscape of cancer in racially and ethnically diverse populations

CE Thomas, U Peters - Nature Reviews Genetics, 2024 - nature.com
Cancer incidence and mortality rates can vary widely among different racial and ethnic
groups, attributed to a complex interplay of genetic, environmental and social factors …