Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Common and rare variant associations with clonal haematopoiesis phenotypes
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 …
Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population
Importance VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory,
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
Exome sequencing and analysis of 454,787 UK Biobank participants
A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …
consequences of altering each protein-coding gene in the genome. Here we used exome …
Disease variant prediction with deep generative models of evolutionary data
Quantifying the pathogenicity of protein variants in human disease-related genes would
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
Rare variant associations with plasma protein levels in the UK Biobank
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
The sequences of 150,119 genomes in the UK Biobank
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …
phenotypic diversity depends on a comprehensive and reliable characterization of both …
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …
associated with human disease, but the contribution of rare variants to common disease …
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …
by somatic driver mutations, affects over a third of people, yet remains poorly understood …