Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

Genetic diversity fuels gene discovery for tobacco and alcohol use

GRB Saunders, X Wang, F Chen, SK Jang, M Liu… - Nature, 2022 - nature.com
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

M Byrska-Bishop, US Evani, X Zhao, AO Basile… - Cell, 2022 - cell.com
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …

Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals

K Hou, Y Ding, Z Xu, Y Wu, A Bhattacharya, R Mester… - Nature …, 2023 - nature.com
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …

Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction

R Karlsson Linnér, TT Mallard, PB Barr… - Nature …, 2021 - nature.com
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …

A new method for multiancestry polygenic prediction improves performance across diverse populations

H Zhang, J Zhan, J **, J Zhang, W Lu, R Zhao… - Nature …, 2023 - nature.com
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …

The MRC IEU OpenGWAS data infrastructure

B Elsworth, M Lyon, T Alexander, Y Liu, P Matthews… - BioRxiv, 2020 - biorxiv.org
Data generated by genome-wide association studies (GWAS) are growing fast with the
linkage of biobank samples to health records, and expanding capture of high-dimensional …