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 …
Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Exome sequencing and analysis of 454,787 UK Biobank participants
JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou… - Nature, 2021 - nature.com
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 …
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …
Systems biology in cardiovascular disease: a multiomics approach
Omics techniques generate large, multidimensional data that are amenable to analysis by
new informatics approaches alongside conventional statistical methods. Systems theories …
new informatics approaches alongside conventional statistical methods. Systems theories …
An integrated framework for local genetic correlation analysis
J Werme, S van der Sluis, D Posthuma, CA de Leeuw - Nature genetics, 2022 - nature.com
Genetic correlation (rg) analysis is used to identify phenotypes that may have a shared
genetic basis. Traditionally, rg is studied globally, considering only the average of the …
genetic basis. Traditionally, rg is studied globally, considering only the average of the …
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Abstract Type 2 diabetes (T2D) is a very common disease in humans. Here we conduct a
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank
Background Clinical and epidemiologic studies have shown that obesity is associated with
asthma and that these associations differ by asthma subtype. Little is known about the …
asthma and that these associations differ by asthma subtype. Little is known about the …
Abundant associations with gene expression complicate GWAS follow-up
To the Editor—Genome-wide association studies (GWAS) are rapidly expanding the catalog
of trait-and disease-associated variants. With increasing cohort size and phenotyping …
of trait-and disease-associated variants. With increasing cohort size and phenotyping …
Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis
Background Polycystic ovary syndrome (PCOS) is a common, complex genetic disorder
affecting up to 15% of reproductive-age women worldwide, depending on the diagnostic …
affecting up to 15% of reproductive-age women worldwide, depending on the diagnostic …