Predicted Deleterious Variants in Cardiomyopathy Genes Prognosticate Mortality and Composite Outcomes in the UK Biobank

B Asatryan, RA Shah, G Sharaf Dabbagh… - Heart Failure, 2024 - jacc.org
Background Inherited cardiomyopathies present with broad variation of phenotype. Data are
limited regarding genetic screening strategies and outcomes associated with predicted …

PharmGWAS: a GWAS-based knowledgebase for drug repurposing

H Kang, S Pan, S Lin, YY Wang, N Yuan… - Nucleic Acids …, 2024 - academic.oup.com
Leveraging genetics insights to promote drug repurposing has become a promising and
active strategy in pharmacology. Indeed, among the 50 drugs approved by FDA in 2021, two …

[HTML][HTML] Influences of rare copy-number variation on human complex traits

MLA Hujoel, MA Sherman, AR Barton, RE Mukamel… - Cell, 2022 - cell.com
The human genome contains hundreds of thousands of regions harboring copy-number
variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown …

Genetic map of regional sulcal morphology in the human brain from UK biobank data

BB Sun, SJ Loomis, F Pizzagalli, N Shatokhina… - Nature …, 2022 - nature.com
Genetic associations with macroscopic brain structure can provide insights into brain
function and disease. However, specific associations with measures of local brain folding …

Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities

R Malik, N Beaufort, S Frerich, B Gesierich… - Brain, 2021 - academic.oup.com
White matter hyperintensities (WMH) are among the most common radiological
abnormalities in the ageing population and an established risk factor for stroke and …

Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study

M Zheng, DQ Huang, C Konkwo, S Agrawal, AV Khera… - JHEP Reports, 2023 - Elsevier
Background & Aims Lean patients with non-alcoholic fatty liver disease (NAFLD) represent
10–20% of the affected population and may have heterogeneous drivers of disease. We …

Exome-wide screening identifies novel rare risk variants for major depression disorder

S Cheng, B Cheng, L Liu, X Yang, P Meng, Y Yao… - Molecular …, 2022 - nature.com
Despite thousands of common genetic loci of major depression disorders (MDD) have been
identified by GWAS to date, a large proportion of genetic variation predisposing to MDD …

Whole exome sequencing analysis identifies genes for alcohol consumption

J Kang, YT Deng, BS Wu, WS Liu, ZY Li… - Nature …, 2024 - nature.com
Alcohol consumption is a heritable behavior seriously endangers human health. However,
genetic studies on alcohol consumption primarily focuses on common variants, while …

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults

L Yang, YN Ou, BS Wu, WS Liu, YT Deng… - Nature …, 2024 - nature.com
The genetic contribution of protein-coding variants to immune-mediated diseases (IMDs)
remains underexplored. Through whole exome sequencing of 40 IMDs in 350,770 UK …

CanRisk-prostate: a comprehensive, externally validated risk model for the prediction of future prostate cancer

T Nyberg, MN Brook, L Ficorella, A Lee… - Journal of Clinical …, 2023 - ascopubs.org
PURPOSE Prostate cancer (PCa) is highly heritable. No validated PCa risk model currently
exists. We therefore sought to develop a genetic risk model that can provide personalized …