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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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 ... -
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 ... -
Pervasive lesion segregation shapes cancer genome evolution
Cancers arise through the acquisition of oncogenic mutations and grow by clonal expansion. Here we reveal that most mutagenic DNA lesions are not resolved into a mutated DNA base pair within a single cell cycle. Instead, ... -
GenomeArtiFinder variant include list
Background: The loss of genetic diversity in segments over a genome (loss-of-heterozygosity, LOH) is a common occurrence in many types of cancer. By analysing patterns of preferential allelic retention during LOH in ... -
Dataset pertaining to the publication "Quantitative levels of serum N-glycans in type 1 diabetes and their association with kidney disease"
The files are comma separated and contain measurements for 46 N-glycan peaks on 1581 serum samples (corresponding to 1565 unique participants) from SDRNT1BIO and from a pool of healthy controls. N-glycan peaks are expressed ... -
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". -
VEP predictions for ClinVar and gnomAD variants
Variant effect predictions and DMS data for ClinVar and gnomAD variants in BRCA1, P53, CALM1, PTEN, HRAS and TPK1. -
Variant effect predictions for human, yeast, bacterial and viral proteins
Variant effect predictions made by DEOGEN2, Envision, FATHMM, Fathmm-MKL, FathmmXF, MPC, MutationTaster, MutPred, NetDiseaseSNP, PhD_SNP, PolyPhen2 (HumDiv and HumVar), PonPS, PonP2, PrimateAI, S3D-PROF, SNAP2, SNPs&GO, ... -
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 ... -
Supplementary data to "Ligand binding site structure shapes folding, assembly and degradation of homomeric protein complexes" by G. Abrusan and J.A. Marsh
The structure of ligand binding sites has profound consequences for the evolution of function of protein complexes, particularly in homomers. Homomers with multichain binding sites (MBS) are characterized with more conserved ... -
Supplementary data to "Ligand binding site structure shapes allosteric signal transduction and the evolution of allostery in protein complexes" by G. Abrusan and J.A. Marsh
The structure of ligand binding sites has been shown to profoundly influence the evolution of function in homomeric protein complexes. Complexes with multi-chain binding sites (MBSs) have more conserved quaternary structure, ... -
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. ... -
Supplementary files for study on modeling DSB with random forests
Structural variants (SVs) are known to play important roles in a variety of cancers, but their origins and functional consequences are still poorly understood. The nonrandom distributions of these variants across tumour ... -
Supplementary data to "Ligand binding site structure influences the evolution of protein complex function and topology" by G. Abrusan and J.A. Marsh
It has been suggested that the evolution of protein complexes is significantly influenced by stochastic, non-adaptive processes. Using ligand binding as a proxy of function, we show that the structure of ligand-binding ... -
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 ...
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