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EGAS00001001565-sc-20180606 - samples

ABSTRACT: This data set contains whole exome sequences of individuals with self-stated parental relatedness from the East London Genes & Health cohort. Rare frequency functional variants in these healthy individuals will be studied with respect to the genetic health of the participants and loss-of-function analysis of human genes. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ . This dataset contains all the data available for this study on 2018-06-06.

PROVIDER: EGAD00001004150 | EGA |

REPOSITORIES: EGA

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EGAS00001001565-sc-20170309 - samples

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The British Autozygosity Populations BioResource

Project description:This data set contains whole exome sequences of individuals with self-stated parental relatedness from the East London Genes & Health cohort. Rare frequency functional variants in these healthy individuals will be studied with respect to the genetic health of the participants and loss-of-function analysis of human genes. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

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EGAS00001002742-sc-2019-08-14T08:20:47Z - samples

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The British Autozygosity Populations BioResource

Project description:This data set contains whole exome sequences of 500 individuals with self-stated parental relatedness from the East London Genes & Health cohort. Rare frequency functional variants in these healthy individuals will be studied with respect to the genetic health of the participants and loss-of-function analysis of human genes.

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EGAS00001001565-sc-2022-04-26T09:28:52Z - samples

Project description:This data set contains whole exome sequences of individuals from 8086 (mostly British Pakistani/British Bangladeshi, mostly self-reported parentally related) individuals from the following studies: 1. 5236 British Pakistani/British Bangladeshi adults from East London Genes & Health, now known as Genes & Health 2. 2624 British South Asian mothers from Born in Bradford (mostly Pakistani) 3. 1061 British South Asian adults from Birmingham (mostly Pakistani) This dataset contains all the exome sequence data available for this study on 2022-04-26

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EGAS00001001565-sc-20190125 - samples

Project description:This includes variant calls (single nucleotide variants and small insertions/deletions) from 8086 (mostly British Pakistani/British Bangladeshi) individuals from the following studies: 1. 3781 British Pakistani/British Bangladeshi adults from East London Genes and Health 2. 2791 British South Asian mothers from Born in Bradford 3. 1428 British South Asian adults from Birmingham 4. 86 individuals (mixed ancestries) from families with rare diseases, from Queen Mary University London All of the Birmingham and most of the Born in Bradford samples were previously sequenced as part of PMID: 26940866. Mapping was done with bwa-mem and variant calling was carried out with GATK HaplotypeCaller. We removed variant sites for which the following was true: SNPs: "QD < 2.0 || FS > 30 || MQ < 40.0 || MQRankSum < -12.5 || ReadPosRankSum < -8.0" Indels: "QD < 2.0 || FS > 30 || ReadPosRankSum < -20.0"

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EGAS00001002787-sc-2019-06-12T09:26:53Z - samples

Project description:15x Whole Genome Sequencing of 15,000 individuals from the INTERVAL study cohort, phase III. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ . This dataset contains all the data available for this study on 2019-06-12.

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EGAS00001002461-sc-2019-06-12T09:27:47Z - samples

Project description:15x Whole Genome Sequencing of 15,000 individuals from the INTERVAL study cohort, phase II. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ . This dataset contains all the data available for this study on 2019-06-12.

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Blood Transcriptional Profiling of a prospective HIV-negative UK Cohort of Tuberculosis Contacts

Project description:Blood transcriptional signatures may predate clinical diagnosis and detect subclinical incipient tuberculosis (TB) disease. To validate such blood signatures, close contacts of TB patients were recruited from multiple TB clinics in London. Close contacts of active TB were defined as individuals with a cumulative duration of exposure of greater than eight hours in a confined space to the index case prior to initiation of treatment. Known human immunodeficiency virus (HIV)-positive patients were excluded. At enrolment, interferon gamma release assays (IGRAs) were done using the QuantiFERON-TB Plus assay (Qiagen, Germany), and peripheral blood was collected into Tempus tubes for whole genome transcriptional profiling by RNA sequencing. Participants who progressed to active TB were identified by linkage with the national electronic TB register. Local case notes were reviewed to identify individuals who had received preventative treatment. This submission contains data from n=360 adult participants, of which n=9 progressed to TB during a median follow-up time of 1.9 years. The data were used for two publications: The first publication (Roe et al 2019) makes use of an initial subset of n=333 participants, of which n=6 progressed to TB during the median follow-up time of 346 days. In the second publication (Gupta et al 2019), we extended the dataset to n=360 participants and the median follow-up time to 1.9 years; n=3 initial non-progressors progressed to TB during this extended follow-up.

2019-08-29 | E-MTAB-6845 | biostudies-arrayexpress

Schistosoma mansoni smallRNA Seq and strand specific RNA seq

Project description:Blood flukes of the genus Schistosoma (Platyhelminthes, Trematoda, Digenea) are responsible for the chronic debilitating disease schistosomiasis / bilharzia, widely considered to be second only to malaria as a global health problem and an incalculable drain on the economic development of endemic countries. Since 1994, the World Health Organization has supported a genome initiative for Schistosoma, the Schistosoma Genome Network, aimed at identifying new targets for drug and vaccine development, understanding the molecular basis of parasite metabolism and development and determining biological variation. The study of small-RNAs as key players in the regulation of gene expression differentiation is important to the understanding of the parasites biology. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2013-05-28 | E-ERAD-93 | biostudies-arrayexpress

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