Ischemia reperfusion is an unavoidable step of organ transplantation. Development of therapeutics for lung injury during transplantation has proved challenging; understanding lung injury from human data at the single cell resolution is required to accelerate the development of therapeutics. Donor lung biopsies from six human lung transplant cases were collected at the end of cold preservation and 2-hour reperfusion and underwent single cell RNA sequencing. Donor and recipient origin of cells from the reperfusion timepoint were deconvolved. Gene expression profiles were (1) compared between each donor cell type between timepoints and (2) compared between donor and recipient cells. Inflammatory responses from donor lung macrophages were found after reperfusion with upregulation of multiple cytokines and chemokines, especially IL-1 and IL-1. Significant inflammatory responses were found in alveolar epithelial cells (featured by CXCL8) and lung endothelial cells (featured by IL-6 upregulation). Different inflammatory responses were noted between donor and recipient monocytes and CD8+ T cells. The inflammatory signals and differences between donor and recipient cells observed provide insight into the cellular and molecular mechanisms of ischemia reperfusion induced lung injury. Further investigations may lead to the development of novel targeted therapeutics.
840 families where both parents have been genotyped together with the child with severe malaria
Tumor sample of a serious ovarian carcinoma
Blood sample of serious ovarian carcinoma patient
HipSci - Battens Disease - Genotyping Array - July 2017
HipSci - Kabuki Syndrome - Genotyping Array - July 2017
HipSci - Usher Syndrome - Genotyping Array - July 2017
HipSci - Alport Syndrome - Genotyping Array - July 2017
HipSci - Congenital Hyperinsulinia - Genotyping Array - July 2017
HipSci - Hypertrophic Cardiomyopathy - Genotyping Array - July 2017
HipSci - Macular Dystrophy - Genotyping Array - July 2017
HipSci - Retinitis Pigmentosa - Genotyping Array - July 2017
Normal Colon Crypt - EPIC Methylation Array
Dataset for the spanish node
Nanopore pericentromere normal methylation
Transcriptome from EGAS00001001846
Cases with Type 1 Diabetes (T1D) in the UK, were part of the Wellcome Trust Case Control Consortium (WTCCC) - http://www.wtccc.org.uk - that first reported in 2007: Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447, 661-678. [PubMed: 17554300] In this genome-wide association study (GWAS), funded by the NIH and JDRF, and sponsored by the Type 1 Diabetes Genetics Consortium (T1DGC), we were able to extend the case and control groups used in the WTCCC, with the intention of performing a well-powered meta-analysis. The study is written up as: Barrett, J.C., Clayton, D.G., Concannon, P., Akolkar, B., Cooper, J.D., Erlich, H.A., Julier, C., Morahan, G., Nerup, J., Nierras, C., Plagnol, V., Pociot, F., Schuilenburg, H., Smyth, D.J., Stevens, H., Todd, J.A., Walker, N.M., Rich, S.S. and The Type 1 Diabetes Genetics Consortium Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nature Genetics, PMID: 19430480. Resources - data: * Case data from this study is deposited here (i.e. in dbGaP) * Control data from this experiment - with subjects from the 1958 British Birth Cohort - is deposited with the European Genotype Archive (EGA): http://www.ebi.ac.uk/ega/ from where the WTCCC data is also available. * A complete description of how to request all components of the meta-analysis is available at: http://www.t1dbase.org/page/PosterView/display/poster_id/324 * Additional genetic data on the same case subjects, including some HLA types, are available from the Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory (JDRF/WT-DIL): http://www-gene.cimr.cam.ac.uk/todd/ Resources - samples: Case and control DNA samples are also available: * Case DNA samples are available from the JDRF/WT-DIL, as above, and will be available from the NIDDK Genetics Repository at Rutgers: https://www.niddkrepository.org * Control DNA samples are available from the 1958 British Birth Cohort (aka National Child Development Study): http://www.cls.ioe.ac.uk/studies.asp?section=000100020003 Use restrictions: There are access limitations to both data and samples, in order to keep their use in line with subjects' consent.
RNA-SEQ data from 3 recurrent and 1 ovarian primary Granulosa Cell Tumour samples
Signal data for from 3 recurrent and 1 ovarian primary Granulosa Cell Tumour samples
Papuan Genotyping
HipSci - Monogenic Diabetes - Genotyping Array - July 2017
HipSci - Hereditary Cerebellar Ataxias - Genotyping Array - July 2017
HipSci - Hereditary Spastic Paraplegia - Genotyping Array - July 2017
UK BioBank Imputed Dataset
