Medical Research Council Human Genetics Unit
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The MRC Human Genetics Unit is at the forefront of research into human genetics. Its role is to advance the understanding of genetic factors implicated in human disease and normal and abnormal development and physiology. It is situated at the Western General Hospital campus in Edinburgh.
Sub-communities within this community
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e-Mouse Atlas
a digital atlas of mouse development as a spatio-temporal framework for embryological studies
Collections in this community
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Quantitative Trait Locus (QTL) Identification
Research Programme: Quantitative Trait Locus (QTL) Identification -
Research Data from the Boulter-Kendall Research Group
Primarily focusing on liver and biliary development and disease
Recent Submissions
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Prevalence of Y chromosome haplogroups by area of birth in UK Biobank
Data pertaining to the publication "Limited effect of Y chromosome variation on coronary artery disease and mortality in UK Biobank". Phylogenetic analysis was performed using yhaplo v1.1.2 and 166 genotyped SNPs, which ... -
Additional Data pertaining to publication: Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin
Additional 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 ... -
emRiboSeq ribo context analysis
Reprocessed emRiboSeq genomic alignment and filtering as an input to analysis of embedded ribonucleotide sequence context analysis. -
GWAS summary statistics pertaining to the publication "Genetic regulation of post-translational modification of two distinct proteins"
Post-translational modifications diversify protein functions and dynamically coordinate their signalling networks, influencing most aspects of cell physiology. Nevertheless, their genetic regulation or influence on complex ... -
SUPERSEDED - GWAS summary statistics pertaining to the publication "Same role but different actors: genetic regulation of post-translational modification of two distinct proteins"
## This item has been replaced by the one which can be found at https://datashare.ed.ac.uk/handle/10283/4088 ## Post-translational modifications (PTMs) diversify protein functions and dynamically coordinate their signalling ... -
Supplementary Tables for David W Clark's PhD Thesis "Inbreeding depression on human complex traits"
Appendix tables from the doctoral thesis of David W Clark "Inbreeding depression on human complex traits". -
Traveller Genes Data Dictionary
Traveller Genes is a research study supported by the Traveller community. We're looking at the genetics, origins and health of over 200 volunteers who have at least two grandparents who are or were Travellers. This includes ... -
Pathogenic loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure: implications for variant effect prediction
The dataset contains all the protein variants, their annotations and variant effect predictor scores used in the analysis outlined in our study. Abstract of the study: Most known pathogenic mutations occur in protein-coding ... -
Whole slide images of armadillo liver from M.leprae dataset
Whole slide images of H&E stained sections of liver from nine-banded armadillos chronically systemically infected by Mycobacterium leprae, resistant to systemic infection by Mycobacterium leprae, or uninfected. Images ... -
Viking II Data Dictionary
VIKING II was made possible thanks to Medical Research Council (MRC) funding. We aim to better understand what might cause diseases such as heart disease, eye disease, stroke, diabetes and others by inviting 4,000 people ... -
Wnt Pathway Analysis mapped gene-expression point-cloud data
We provide a unique dataset of 3D mapped gene expression patterns that operate within a vital signalling system for normal development, openly available to the scientific community for further analysis. The associated ... -
Wnt Pathway Analysis mapped gene-expression data
We provide a unique dataset of 3D mapped gene expression patterns that operate within a vital signalling system for normal development, openly available to the scientific community for further analysis. The associated ... -
Interface size drives cotranslational assembly of protein complexes
The dataset contains an R notebook and the associated data files that are parsed by the analysis script. The R notebook is an R Markdown document written in R version 4.1.1, and it is best viewed, edited, and run in R ... -
Supporting data for: "The properties of human disease mutations at protein interfaces"
ABSTRACT: The assembly of proteins into complexes and interactions with other biomolecules are often vital for their biological function. While it is known that mutations at protein interfaces have a high potential to ... -
Extended Supplementary Tables for Thesis: "Omics Measures of Ageing and Disease Susceptibility" by Erin Macdonald-Dunlop
Extended supplementary tables from the thesis entitled "Omics Measures of Ageing and Disease Susceptibility" by Erin Macdonald-Dunlop. Supplementary tables for the three results chapters are in the corresponding ... -
Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome
ATAC-Seq reports local chromatin accessibility and provides a snapshot of active regulatory regions and genomic regions occupied by DNA-binding proteins in a given tissue. We used ATAC-Seq to identify open chromatin sites ... -
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 ... -
Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging
Genome-wide association summary statistics supporting the article Timmers et. al (2022) Nature Aging https://doi.org/10.1038/s43587-021-00159-8. -
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 ...
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