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 …

Mendelian randomization as a tool for cardiovascular research: a review

MG Levin, S Burgess - JAMA cardiology, 2024 - jamanetwork.com
Importance Mendelian randomization (MR) is a statistical approach that has become
increasingly popular in the field of cardiovascular disease research. It offers a way to infer …

Genomic data in the all of us research program

Biobank, Mayo Blegen Ashley L. 18 Wirkus Samantha … - Nature, 2024 - nature.com
Comprehensively map** the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics,,–. The All of Us Research Program is a …

Genotype× environment interactions in gene regulation and complex traits

C Boye, S Nirmalan, A Ranjbaran, F Luca - Nature Genetics, 2024 - nature.com
Genotype× environment interactions (GxE) have long been recognized as a key mechanism
underlying human phenotypic variation. Technological developments over the past 15 years …

Rare coding variant analysis for human diseases across biobanks and ancestries

SJ Jurgens, X Wang, SH Choi, LC Weng, S Koyama… - Nature Genetics, 2024 - nature.com
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …

Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry

KJM Benjamin, Q Chen, NJ Eagles… - Nature …, 2024 - nature.com
Ancestral differences in genomic variation affect the regulation of gene expression; however,
most gene expression studies have been limited to European ancestry samples or adjusted …

Deciphering the impact of genomic variation on function

Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

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

R **ang, 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 …

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 …

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

KJ Karczewski, R Gupta, M Kanai, W Lu, K Tsuo… - MedRxiv, 2024 - medrxiv.org
Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide
association studies that elucidate genetic etiology of complex traits. However, individuals …