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The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of personally identifiable genetic, phenotypic, and clinical data generated for the purposes of biomedical research projects or in the context of research-focused healthcare systems.

  • Latest studies

    Increased somatic mutation burdens in normal human cells due to defective DNA polymerases. – 2021-09-30

    Bottleneck Sequencing Of Human Tissue Wgs Read more

     Study 1 / 5

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  • Latest studies

    The growing need for controlled data access models in clinical proteomics and metabolomics. – 2021-10-01

    Telomere maintenance by telomerase activation or alternative lengthening of telomeres (ALT) is a major determinant of poor outcome in neuroblastoma. Here, we screen for ALT in primary and Read more

     Study 2 / 5

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  • Latest studies

    Mapping the human genetic architecture of COVID-19 – 2021-08-21

    The COVID-19 host genetics initiative is a bottom-up collaborative effort that has three main goals: 1. Provide an environment to foster the sharing of resources to facilitate COVID-19 ho Read more

     Study 3 / 5

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  • Latest studies

    Single-cell analysis of patient-derived PDAC organoids reveals cell state heterogeneity and a conserved developmental hierarchy. – 2021-10-05

    We derived PDAC organoids from primary tumors of 18 patients, together with two matched samples from liver metastases. By single-cell RNA sequencing, we show that PDAC organoids consist o Read more

     Study 4 / 5

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  • Latest studies

    Determinants of renal cell carcinoma invasion and metastatic competence. – 2021-10-04

    We prospectively enrolled 83 patients with a renal mass and TT scheduled to undergo surgical resection. To accurately integrate genomic and transcriptomic findings and enable histological Read more

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