Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

JD Szustakowski, S Balasubramanian, E Kvikstad… - Nature …, 2021 - nature.com
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …

Reaching the end-game for GWAS: machine learning approaches for the prioritization of complex disease loci

HL Nicholls, CR John, DS Watson, PB Munroe… - Frontiers in …, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have revealed thousands of genetic loci that
underpin the complex biology of many human traits. However, the strength of GWAS–the …

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 …

Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images

B Zhao, T Li, Z Fan, Y Yang, J Shu, X Yang, X Wang… - Science, 2023 - science.org
Cardiovascular health interacts with cognitive and mental health in complex ways, yet little is
known about the phenotypic and genetic links of heart-brain systems. We quantified heart …

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

MK Bakker, RAA van der Spek, W van Rheenen… - Nature …, 2020 - nature.com
Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of
stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we …

Causal influences of neuroticism on mental health and cardiovascular disease

F Zhang, A Baranova, C Zhou, H Cao, J Chen, X Zhang… - Human genetics, 2021 - Springer
We investigated the relationship between neuroticism and 16 mental and 18 physical traits
using summary results of genome-wide association studies for these traits. LD score …

Genoty** and population characteristics of the China Kadoorie Biobank

RG Walters, IY Millwood, K Lin, DS Valle, P McDonnell… - Cell Genomics, 2023 - cell.com
Summary The China Kadoorie Biobank (CKB) is a population-based prospective cohort of>
512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across …

Study profile of the Tohoku medical megabank community-based cohort study

A Hozawa, K Tanno, N Nakaya, T Nakamura… - Journal of …, 2021 - jstage.jst.go.jp
Background: We established a community-based cohort study to assess the long-term
impact of the Great East Japan Earthquake on disaster victims and gene-environment …

Importance of including non-European populations in large human genetic studies to enhance precision medicine

D Ju, D Hui, DA Hammond, A Wonkam… - Annual review of …, 2022 - annualreviews.org
One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

Identification of risk loci for primary aldosteronism in genome-wide association studies

E Le Floch, T Cosentino, CK Larsen… - Nature …, 2022 - nature.com
Primary aldosteronism affects up to 10% of hypertensive patients and is responsible for
treatment resistance and increased cardiovascular risk. Here we perform a genome-wide …