Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency
… Using UK Biobank exome sequence data in 104,733 postmenopausal … analyses described
in this study, we accessed WES data for 454,787 individuals from the UK Biobank study …
in this study, we accessed WES data for 454,787 individuals from the UK Biobank study …
[HTML][HTML] Genetic architecture of DCC and influence on psychological, psychiatric and cardiometabolic traits in multiple ancestry groups in UK Biobank
… In UK Biobank, we systematically assessed genetic variation in the DCC locus for … and
psychiatric-related traits in unrelated “white British” participants (N = 402,837). Logistic or linear …
psychiatric-related traits in unrelated “white British” participants (N = 402,837). Logistic or linear …
[PDF][PDF] Studying the effects of genetic factors on the female reproductive lifespan
S Shekari - 2024 - ore.exeter.ac.uk
… utilise population whole-exome sequencing data for the first … The UK Biobank has been
instrumental in identifying genetic … Furthermore, the UK Biobank is a publicly accessible resource…
instrumental in identifying genetic … Furthermore, the UK Biobank is a publicly accessible resource…
[PDF][PDF] Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
KC de Andrade, NT Strande, J Kim, JS Haley… - Human Genetics and …, 2024 - cell.com
… Exome sequencing and analysis of 454,787 UK Biobank participants. Nature 599, 628–634. …
research and drug discovery through exome sequencing of the UK Biobank. Nat. Genet. …
research and drug discovery through exome sequencing of the UK Biobank. Nat. Genet. …
Genomic ascertainment of primary central nervous system cancers in adolescents and young adults
DR Stewart - Neuro-Oncology Advances, 2024 - academic.oup.com
… Geisinger MyCode is a private, exome-sequenced, EHR-linked biobank that recruited
participants from a health system (n = 170 503 exomes 4 ). Both the UK Biobank and Geisinger …
participants from a health system (n = 170 503 exomes 4 ). Both the UK Biobank and Geisinger …
[HTML][HTML] Polygenic risk alters the penetrance of monogenic kidney disease
… By combining SNP array, exome/genome sequence, and electronic health record data
from the UK Biobank and All-of-Us cohorts, we demonstrate that the genome-wide polygenic …
from the UK Biobank and All-of-Us cohorts, we demonstrate that the genome-wide polygenic …
[HTML][HTML] Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
… the glaucoma cases in our study (especially from cohort studies such as UK Biobank (UKB)) …
from exome sequencing based on 454,787 UKB participants 12 . The exome sequencing …
from exome sequencing based on 454,787 UKB participants 12 . The exome sequencing …
Human genetic evidence supports MAP3K15 inhibition as a therapeutic strategy for diabetes
… collapsing analysis on exome sequences from 454,796 multi-ancestry UK Biobank participants
to … Consistent with this, a more recent study of 454,787 UKB participants 11 also found …
to … Consistent with this, a more recent study of 454,787 UKB participants 11 also found …
[HTML][HTML] Understanding the genetic complexity of puberty timing across the allele frequency spectrum
… These common variant analyses were supported by exome sequence analysis of ~220,000
women, identifying several genes, including rare loss of function variants in ZNF483 which …
women, identifying several genes, including rare loss of function variants in ZNF483 which …
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
… Here, we utilize WES data from nearly 300,000 multiancestry participants from the UK
Biobank (UKB) to identify genes whose perturbation by rare coding alleles influences ultrasound-…
Biobank (UKB) to identify genes whose perturbation by rare coding alleles influences ultrasound-…