15 years of GWAS discovery: realizing the promise
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 …
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
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 …
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …
The genetics of obesity: from discovery to biology
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 …
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 …
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
From target discovery to clinical drug development with human genetics
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 …
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 …
open-access policy allows researchers worldwide, from academia or industry, to perform …
[HTML][HTML] Germline Mutations in CIDEB and Protection against Liver Disease
Background Exome sequencing in hundreds of thousands of persons may enable the
identification of rare protein-coding genetic variants associated with protection from human …
identification of rare protein-coding genetic variants associated with protection from human …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
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 …
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
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 …
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
Abstract The UK Biobank Pharma Proteomics Project (UKB-PPP) is a collaboration between
the UK Biobank (UKB) and thirteen biopharmaceutical companies characterising the plasma …
the UK Biobank (UKB) and thirteen biopharmaceutical companies characterising the plasma …