Quantitative Trait Locus (QTL) Identification
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The aims of this work are (i) to genetically map and identify quantitative trait loci (QTL) concerned with common human disorders; (ii) to characterise the genetic architecture of complex traits; (iii) to evaluate the use of genetic markers in trait prediction and treatment.
Items in this Collection
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Data pertaining to publication: Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin
Uromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of uromodulin remain essentially unknown. We conducted a ... -
GWAMA summary data for morning plasma cortisol from the Cortisol Network (CORNET) Consortium 2021 (n=25,314)
The stress hormone cortisol modulates fuel metabolism, cardiovascular homoeostasis, mood, inflammation and cognition. The CORtisol NETwork (CORNET) consortium previously identified a single locus associated with morning ... -
Genetically independent phenotype analysis identifies LPA and VCAM1 as drug targets for human ageing
Data supporting the manuscript Timmers et. al (2021) bioRXiv https://doi.org/10.1101/2021.01.22.427837 . -
Cornea resistance factor GWAS in the UK Biobank
Summary statistics from the genome-wide association study (GWAS) of cornea resistance factor (CRF) of 76,029 UK Biobank samples of British ancestry obtained through the application number 19655. The CRF analysis was ... -
Protein genome-wide associations from the paper 'Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits'.
Data in support of the manuscript "Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits". -
Insights into the genetic basis of retinal detachment
Dataset of genome-wide association meta-analysis summary statistics associated with the publication “Insights into the genetic basis of retinal detachment” available at HMG: DOI: 10.1093/hmg/ddz294. If you use this dataset, ... -
Dataset 2 pertaining to the publication "Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants"
The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from ~24,000 adult volunteers across ... -
GWAS summary statistics for UPLC IgG N-glycosylation traits
The majority of proteins undergo post-translational glycosylation, in which complex carbohydrates are attached to the surface of proteins. However, when studying glycoproteins, the glycan component is often neglected. ... -
Dataset concerning the manuscript "Rare variants implicate ENPP6 as a regulator of reduced visceral adiposity"
The Orkney Complex Disease Study (ORCADES) is a family-based population cohort with DNA, biological samples, and a wide range of clinical data from ~2,000 adult volunteers from the Orkney Islands. Genotype data is also ... -
Central cornea thickness Genome Wide Association Meta Analyses - Summary statistics
Results from the meta-analyses of genome-wide association studies for central cornea thickness in human. Corneal thinning is a common feature of rare Mendelian connective tissue disorders, such as Ehlers-Danlos syndrome ... -
GWAS summary statistics for uric acid in GS:SFHS
The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from ~24,000 adult volunteers across ... -
SUPERSEDED - Dataset 2 pertaining to the publication "Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants"
## This item has been replaced by the one which can be found at https://doi.org/10.7488/ds/2602 ## The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological ... -
SUPERSEDED - Summary GWAS data for morning plasma cortisol from the Cortisol Network (CORNET) Consortium 2014 (n=12,597)
## This Item has been replaced by the one which can be found at https://doi.org/10.7488/ds/2986 . ## Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based ... -
Dataset 1 pertaining to the publication "Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants"
The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from ~24,000 adult volunteers across ... -
Dataset pertaining to the publication “Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.”
The majority of human proteins are post-translationally modified by covalent addition of one or more complex oligosaccharides (glycans). Alterations in glycosylation processing are associated with numerous diseases and ... -
Genome-wide p-values of nine multivariate IgG glycan GWAS
Whole-genome multivariate association results for nine groups of IgG N-glycosylation phenotypes. For the detailed definition of the glycan groups, please refer to Shen et al. (2017) Nature Communications: "Multivariate ... -
Family Genotype and Phenotype Data
The data forms part of the Resource pack Human genetic variation and disease, which is a real data resource to allow students to explore genetic and phenotypic data as part of their Scottish Qualifications Authority Nat5 ... -
Dataset pertaining to the publication “Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers”
Dataset pertaining to the publication “Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers”. The files are comma separated and contain genome ...
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