Pharmacogenomics: current status and future perspectives

M Pirmohamed - Nature Reviews Genetics, 2023 - nature.com
Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …

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 …

FinnGen provides genetic insights from a well-phenotyped isolated population

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - Nature, 2023 - nature.com
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

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 …

FinnGen: Unique genetic insights from combining isolated population and national health register data

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - medrxiv, 2022 - medrxiv.org
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

JA Morris, C Caragine, Z Daniloski, J Domingo, T Barry… - Science, 2023 - science.org
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals

H Zhou, RL Kember, JD Deak, H Xu, S Toikumo… - Nature Medicine, 2023 - nature.com
Problematic alcohol use (PAU), a trait that combines alcohol use disorder and alcohol-
related problems assessed with a questionnaire, is a leading cause of death and morbidity …

Genetic variation across and within individuals

Z Yu, THH Coorens, MM Uddin, KG Ardlie… - Nature Reviews …, 2024 - nature.com
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …