15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

2024 heart disease and stroke statistics: a report of US and global data from the American Heart Association

SS Martin, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2024 - Am Heart Assoc
BACKGROUND: The American Heart Association (AHA), in conjunction with the National
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …

The genetics of obesity: from discovery to biology

RJF Loos, GSH Yeo - Nature Reviews Genetics, 2022 - nature.com
The prevalence of obesity has tripled over the past four decades, imposing an enormous
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …

Common and rare variant associations with clonal haematopoiesis phenotypes

MD Kessler, A Damask, S O'Keeffe, N Banerjee, D Li… - Nature, 2022 - nature.com
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …

From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

UK Biobank: a globally important resource for cancer research

MC Conroy, B Lacey, J Bešević, W Omiyale… - British Journal of …, 2023 - nature.com
UK Biobank is a large-scale prospective study with deep phenotyping and genomic data. Its
open-access policy allows researchers worldwide, from academia or industry, to perform …

[HTML][HTML] Germline Mutations in CIDEB and Protection against Liver Disease

N Verweij, ME Haas, JB Nielsen… - … England Journal of …, 2022 - Mass Medical Soc
Background Exome sequencing in hundreds of thousands of persons may enable the
identification of rare protein-coding genetic variants associated with protection from human …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis

S Zhou, OA Sosina, J Bovijn, L Laurent, V Sharma… - Nature Genetics, 2023 - nature.com
In this study, we leveraged the combined evidence of rare coding variants and common
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - BioRxiv, 2022 - biorxiv.org
Abstract The UK Biobank Pharma Proteomics Project (UKB-PPP) is a collaboration between
the UK Biobank (UKB) and thirteen biopharmaceutical companies characterising the plasma …