1,721,196 research outputs found
Dataset pertaining to the publication "Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities"
No full textVitart, Veronique. (2016). Dataset pertaining to the publication "Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities", 2001-2005 [dataset]. University of Edinburgh. MRC Human Genetics Unit. Quantitative Trait Locus (QTL) Identification.. http://dx.doi.org/10.7488/ds/1456
Insights into the genetic basis of retinal detachment
No full textDataset 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, please cite the manuscript.Boutin, Thibaud; Vitart, Veronique. (2019). Insights into the genetic basis of retinal detachment, [dataset]. MRC Human Genetics Unit IGMM. University of Edinburgh
Family Genotype and Phenotype Data
No full textThe 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 or Higher Biology Assignment, http://www.ed.ac.uk/mrc-human-genetics-unit/public-events-resources/inspiring-the-next-generation-of-researchers/school-data-resources Staff from the MRC Human Genetics Unit worked with the lead biology teachers for Edinburgh and their colleagues to create the resource. The dataset consists of individual level genotype and phenotype of participants in Generation Scotland (Scottish Family Health Study, GS:SFHS), www.generationscotland.orgKerr, Shona; Campbell, Archie; Porteous, David; Hayward, Caroline. (2016). Family Genotype and Phenotype Data, [dataset]. Institute of Genetics & Molecular Medicine MRC Human Genetics Unit. https://doi.org/10.7488/ds/1581. [Part of the Edinburgh DataShare QTL Collection.
Code and datasets for structural analyses in Natan et al, "Assembly in the translation milieu imposes evolutionary constraints on homomeric proteins"
No full textThis contains datasets and Perl scripts needed to reproduce the figures in Natan et al "Assembly in the translation milieu imposes evolutionary constraints on homomeric proteins". Specifically, it can be used to calculate the N- vs C-terminal interface enrichment for sets of homomeric or heteromeric structures, as in Figs 1B-C, and Figs S1-S3. The archive should only be extracted on a case-sensitive file system. The scripts have been tested on Mac and Linux systems.Marsh, Joseph. (2017). Code and datasets for structural analyses in Natan et al, "Assembly in the translation milieu imposes evolutionary constraints on homomeric proteins", [dataset]. University of Edinburgh. MRC Human Genetics Unit. http://dx.doi.org/10.7488/ds/2227
Human genetic variation and disease
No full textThe 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 or Higher Biology Assignment, http://www.ed.ac.uk/mrc-human-genetics-unit/public-events-resources/inspiring-the-next-generation-of-researchers/school-data-resources
Staff from the MRC Human Genetics Unit worked with the lead biology teachers for Edinburgh and their colleagues to create the resource. The dataset consists of individual level genotype and phenotype of participants in Generation Scotland (Scottish Family Health Study, GS:SFHS), www.generationscotland.org .
This dataset is part of the QTL Collection https://datashare.ed.ac.uk/handle/10283/70
Putting the genome on the map
No full textThe maps of our everyday lives are much more than
just linear lists of place names. Instead, their colours, symbols, contours and grid lines seek to describe different types of landscape, and to depict the spatial relationships between structural and functional landmarks of the environment (Fig. 1). It was the combination of photography and aviation that revolutionized mapmaking in the early part of this century. In much the same way, it is fluorescence microscopy and digital imaging (Box 1) in combination with molecular genetics that is driving our emerging view of the genome in space and time
GWAS summary statistics for uric acid in GS:SFHS
No full textThe 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 Scotland. Although data collection was cross-sectional, GS:SFHS became a prospective cohort due to the ability to link to routine Electronic Health Record (EHR) data. Over 20,000 participants were selected for genotyping using a genome-wide array. Genome-wide association studies (GWAS) were used to test the effects of variants on the uric acid phenotype from the EHR. Results replicated a known association and the dataset contains genome-wide association summary statistics for this project.Marten, Jonathan; Vitart, Veronique; Hayward, Caroline. (2017). GWAS summary statistics for uric acid in GS:SFHS, [dataset]. University of Edinburgh, MRC Human Genetics Unit. http://dx.doi.org/10.7488/ds/2125
Viking II Data Dictionary
No full textVIKING 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 with 2 or more grandparents from Orkney and Shetland to complete a questionnaire and provide a saliva sample. This data dictionary outlines what volunteers were asked and indicates the data you can access. To access the data, please e-mail [email protected], Jim Flett; Buchanan, David; Kerr, Shona M; Edwards, Rachel. (2021). Viking II Data Dictionary, [dataset]. University of Edinburgh. Institute of Genetics and Cancer. MRC Human Genetics Unit. https://doi.org/10.7488/ds/3145
Lagging strand replication shapes the mutational landscape of the genome
No full textThe origin of mutations is central to understanding evolution and of key relevance to health. Variation occurs non-randomly across the genome, and mechanisms for this remain to be defined. Here we report that the 5' ends of Okazaki fragments have significantly increased levels of nucleotide substitution, indicating a replicative origin for such mutations. Using a novel method, emRiboSeq, we map the genome-wide contribution of polymerases, and show that despite Okazaki fragment processing, DNA synthesized by error-prone polymerase-alpha (Pol-alpha) is retained in vivo, comprising ~1.5% of the mature genome. We propose that DNA-binding proteins that rapidly re-associate post-replication act as partial barriers to Pol-delta-mediated displacement of Pol-alpha-synthesized DNA, resulting in incorporation of such Pol-alpha tracts and increased mutation rates at specific sites. We observe a mutational cost to chromatin and regulatory protein binding, resulting in mutation hotspots at regulatory elements, with signatures of this process detectable in both yeast and humans.Taylor, Martin; Kemp, Harriet; Marion de Procé, Sophie; Reijns, Martin; Ding, James; Jackson, Andrew. (2015). Lagging strand replication shapes the mutational landscape of the genome, [dataset]. University of Edinburgh. MRC Institute of Genetics and Molecular Medicine. MRC Human Genetics Unit. http://dx.doi.org/10.7488/ds/204
Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers
No full textEnhancers are modular regulatory elements that are central to the spatial and temporal regulation of gene expression. Bidirectional transcription initiating at enhancers has been proposed to mark active enhancers and as such has been utilized to experimentally identify active enhancers de novo. Here, we show that bidirectional transcription initiation is a pervasive feature of accessible chromatin, including at enhancers, promoters, and other DNase hypersensitive regions not marked with canonical histone modification profiles. Transcription is less predictive for enhancer activity than epigenetic modifications such as H3K4me1 or the accessibility of DNA when measured in both enhancer assays and at endogenous loci. The stability of enhancer initiated transcripts does not influence measures of enhancer activity and we cannot detect evidence of purifying selection on the resulting enhancer RNAs within the human population. Our results indicate that bidirectional transcription initiation from accessible chromatin is not sufficient for, nor specific to, enhancer activity. Transcription initiating at enhancers may be a frequent by-product of promiscuous RNA polymerase initiation at accessible chromatin and is unlikely to generally play a functional role in enhancer activity.Young, Robert; Taylor, Martin. (2017). Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers, [text]. University of Edinburgh. MRC IGMM. MRC Human Genetics Unit. http://dx.doi.org/10.7488/ds/226
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