1217 results for ""initial+cohort"+"mid-2020s"+"consortium"+"scholarly+exchange"+"university""

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• Dataset on keratinocytic gene expression pattern in Hidradenitis suppurativa

  Human skin samples were obtained from HS patients after informed consent (Ethical vote, University of Würzburg; No. 306/12). Lesional and perilesional were taken and epidermis and dermis separated. Isolated epidermal keratinocytes were further processed for RNA isolation. mRNA was extracted from five pairwise-matched lesional and perilesional epidermal HS pellets and RNA sequencing was performed.

  Dataset EGAD00001008005

• Colorectal cancer WES/WGS analysis in Dr. Liu’s group in Sun Yat-sen University Cancer Center

  The samples include paired tumor and normal tissues from 205 patients (201 for normal and primary tumor tissues; 4 for normal, primary tumor and liver metastatic tissues). High-coverage WES sequencing or whole genome sequencing of DNA samples were performed on the Illumina HiSeq 2000 system

  Dataset EGAD00001003452

• Federated EGA

  Federated EGA Federated EGA Index Overview Map of FEGA status across the world Current status of the FEGA Network Documentation Overview Federated EGA is a global network of repositories enabling secure discovery and access to sensitive human data. Our vision is to accelerate scientific discovery and healthcare breakthroughs by creating the go-to worldwide sensitive human data resource. Our values are: Privacy & Trust: Ensuring privacy of data subjects, security of services and acting with integrity to build community trust.FAIRness: Driving reuse of data through standardisation of metadata and clear access policies.Diversity: Expanding our network and representing global diversity in the data we host to bring benefits worldwide. Federated EGA - European by name, global by nature Federated EGA collaborates with European and global initiatives (GA4GH, ELIXIR, 1+ Million Genomes Framework, GDI), demonstrating that a network for transnational discovery of and access to human data is possible. By providing a solution to emerging challenges around secure and efficient management of human omics and associated data, the FEGA Network fosters data reuse, enables reproducibility, and accelerates biomedical research. For general enquiries or to request more information about Federated EGA, please send an email to fega-info [at] lists [dot] ega-archive [dot] org. Read more about the Federated EGA in our commentary in Nature Genetics! Learn more about setting up a Federated EGA Node in our onboarding documentation. Map of FEGA status across the world Current status of the FEGA Network Node Description Joined CEGA Central EGA is managed by the Centre for Genomic Regulation (CRG) and EMBL-EBI. The EGA has been a trusted repository for sensitive data since 2008. CEGA coordinates the FEGA network, hosts central services and the EGA catalogue. 2022 Finland FEGA Finland is hosted by CSC - IT Center for Science Ltd., which is the national ELIXIR Node in Finland. CSC is a state-owned company specialising in providing high-quality IT infrastructure and services for Finnish higher education and research. 2022 Germany The German Human Genome-Phenome archive (GHGA) is part of the German National Research Data Infrastructure (NFDI). It is coordinated by the German Cancer Research Center (DKFZ) and includes over 20 academic partners. 2022 Norway FEGA Norway is a service by ELIXIR Norway, the Norwegian node of the European organisation ELIXIR. University of Oslo as a partner institution in ELIXIR Norway is hosting the service relying on the TSD infrastructure for sensitive data. ELIXIR Norway is a consortium of 5 Norwegian universities and is coordinated by University of Bergen. 2022 Spain FEGA Spain is co-hosted by the Barcelona Supercomputer Center (BSC) and the Centre for Genomic Regulation (CRG), both part of ELIXIR Spain and the Spanish National Infrastructure for Personalised Medicine associated with Science and Technology (IMPaCT). 2022 Sweden FEGA Sweden is hosted by the National Bioinformatics Infrastructure Sweden (NBIS), which legally is part of Uppsala University. NBIS forms the bioinformatics platform at SciLifeLab and constitutes the Swedish node of the European organisation ELIXIR. 2022 Poland FEGA Poland is hosted by Biobank Lodz, which is part of University of Lodz. Biobank Lodz is an element of the infrastructure of the Regional Digital Medicine Centers established by the Medical Research Agency. 2022 Portugal FEGA Portugal is managed by BioData.pt, the distributed infrastructure for Life and Health data for Portugal. This entity is a non-profit association of 15 life sciences R&I organisations spread across the country, and the home of ELIXIR Node in Portugal. 2023 Canada Canadian Genome-phenome Archive is part of the Pan Canadian Genome Library, with the mandate to allow the secure and responsible sharing and analysis of Canadian genomic information. 2024 Switzerland Swiss FEGA is hosted by SIB Swiss Institute of Bioinformatics, which is the national ELIXIR Node in Switzerland, on behalf of the Swiss FEGA Partnership which includes 4 other key partners (ETH Zurich, Health 2030 Genome Center, Swiss Data Science Center and Switch). 2025 Documentation Title Version Description Mission, vision, values Federated EGA Mission, vision, values 1.0 The official Mission-Vision-Values statement for FEGA, produced and formally approved by the FEGA Strategic Committee in September 2025. Structure and Organisation Federated EGA Structure and Organisation 2.0 The structure of the FEGA network and service expectations, responsibilities and commitments. FEGA is organised into three tiers: Central EGA, FEGA Nodes and FEGA Affiliates. Strategic Committee Federated EGA Strategic Committee 1.1 Terms of reference for the FEGA Strategic Committee describe the purpose and objectives of the committee, which is to provide direction and strategic planning for the FEGA network. The committee receives input from, and provides feedback for the EGA Strategic Committee. Operations Committee Federated EGA Operations Committee 1.1 Terms of reference for the FEGA Operations Committee describe the purpose and objectives of the committee, which is to review operational performance and coordinate technical roadmaps of FEGA Nodes and Central EGA. The committee receives advice from, and provides operational reporting to the FEGA Strategic Committee. Guidelines Node Operations guidelines 2.1 An overview of the operational areas which require resources in order to create a FEGA Node. The document is based on more than 15 years' experience of EMBL-EBI and CRG operating the EGA and initial expericences of the inaugural FEGA Nodes. The operational areas of responsability are in line with the FEGA Maturity Model, which guides establishment and operation of FEGA Nodes. Collaboration Federated EGA Node Collaboration Agreement 1.3 Nodes are welcome to make a copy of this current version of the CA to start its review with their legal teams and understand the responsibilities of joining FEGA. Nevertheless, this version (the one with a watermark) shall not be signed: the official version needs to be obtained from FEGA prior signing through its official channels.

  Documentation about/projects-and-funders/federated-ega

• InTEAM Consortium - Alcoholic Hepatitis

  Alcoholic hepatitis (AH) is a life-threatening condition characterized by profound hepatocellular dysfunction for which targeted treatments are urgently needed. Identification of molecular drivers is hampered by the lack of suitable animal models. By performing RNA sequencing in livers from patients with different phenotypes of alcohol-related liver disease (ALD), we describe the transcriptional programs involved in disease progression. We uncovered that development of AH is characterized by the defective activity of liver-enriched transcription factors (LETFs). The PPARG predicted activation state was found increased in early forms of ALD, while AH was associated by a marked decrease in HNF4A-dependent gene expression along with a marked expression of the fetal HNF4A isoform (P2). TGFB1, a key upstream transcriptome regulator in AH, induced the use of HNF4a P2 promoter in hepatocytes, which resulted in abnormal bile acid synthesis and defective metabolic and synthetic functions. PPARG agonists partially prevented this effect. We conclude that targeting TGFB1 and epigenetic drivers that modulate HNF4A-dependent gene expression could be beneficial to improve hepatocellular function in patients with AH. The study was conducted thanks to a multicenter collaboration under the National Institute of Alcohol Abuse and Alcoholism (NIAAA)-funded consortium: Integrated Approaches for Identifying Molecular Targets in Alcoholic Hepatitis (InTEAM).

  Study phs001807

• National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC)

  Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 10,000 probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

  Study phs000571

• H3Africa Consortium WGS VCF

  Joint called VCF for whole genome sequence data from 410 samples described in the paper: PMID:33116287. It includes 314 high coverage (average 30X) samples sequenced on the Illumina X-Ten, also available as individual datasets under the H3Africa Chip study (EGAS00001002976) and 112 medium coverage (average 10X) samples from the TrypanGen study (EGAS00001002602) sequenced on Illumina HiSeq 2500. Supplementary table 3 of the paper describes the geographic breakdown of the samples. 16 samples from the Southern African Human Genome project have been removed from this VCF.

  Dataset EGAD00001008577

• Identification of low frequency variants associated with ulcerative colitis using whole-genome sequencing

  2000 ulcerative colitis cases drawn from the UKIBD Genetics Consortium cohort and whole-genome sequenced at 2X depth. A case control association study using control samples whole-genome sequenced by UK10K will be undertaken to identify common, low-frequency and rare variants associated with ulcerative colitis. Data will be combined with similar data across 3000 Crohn's disease cases from the same cohort to identify inflammatory bowel disease (IBD) loci and better understand the genetic differences and similarities of the two common forms of IBD.

  Dataset EGAD00001000409

• ADHD Genomic Association Study

  Studies at Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands, has recruited participants with ADHD and participants without ADHD, which included matched healthy controls and family members of participants with ADHD. ADHD participants met DSM-IV-TR criteria for ADHD. DNAs of these participants, 1005 samples, were anonymously genotyped with Illumina PsychArray. These samples were not part of the PGC-ADHD group. After removing family members, 820 case/control independent samples, including 211 ADHD cases, went through genomic association analyses. Results of ADHD risk genetic markers were compared with genetic markers associated with brain structure alterations in ADHD in adults and adolescents.

  Study phs001869

• Vitamin-D-Kids Asthma

  The Vitamin D Kids Asthma Study (VDKA) was a 48-week multicenter randomized, double-blinded, placebo-controlled trial of vitamin D3 for severe asthma exacerbations in children 6-16 years old, recruited from February 28, 2016 to September 20, 2019. An ancillary study for nasal sampling was conducted at the Pittsburgh site. Prior to randomization, participants completed questionnaires and underwent collection of nasal samples for gene expression studies. VDKA was approved by the IRBs of all participating institutions, and the ancillary study was approved by the IRB of the University of Pittsburgh. Written parental consent was obtained for participating children, from whom written assent was also obtained.

  Study phs004051

• MorphoITH: A Framework for Deconvolving Intra-Tumor Heterogeneity Using Tissue Morphology

  This study introduces MorphoITH, a framework for deconvolving intra-tumor heterogeneity (ITH) in clear cell renal cell carcinoma (ccRCC) based on tissue morphology from histopathological slides. The study tested MorphoITH's ability to capture different aspects of morphology and to reflect genetic ITH. The data deposited here is derived from a morphology guided multi-regional sequencing dataset used to study the relationship between morphology and genetic evolution. This dataset consists of whole exome sequencing of tumor from multiple sites and adjacent normal samples which were collected from two patients treated in affiliated hospitals of the University of Texas Southwestern Medical Center (UTSW), including Parkland Hospital.

  Study EGAS50000001064