The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from biomedical research projects.
  • Latest studies

    Single-Cell Transcriptomics Reveals Spatial and Temporal Turnover of Keratinocyte Differentiation Regulators. – 2019-09-03

    eratinocyte differentiation requires intricately coordinated spatiotemporal expression changes that specify epidermis structure and function. This article utilizes single-cell RNA-seq dat Read more

     Study 1 / 7

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    Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes. – 2019-09-11

    Sarcomas are cancers of the bone and soft tissue often defined by their gene fusions. However, the timing, context, and processes by which these pathogenic fusions arise are unknown. We e Read more

     Study 2 / 7

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  • Latest studies

    Introducing the first whole genomes of nationals from the United Arab Emirates. – 2019-10-11

    Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined Read more

     Study 3 / 7

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    Upregulation of the chromatin remodeler HELLS is mediated by YAP1 in Sonic Hedgehog Medulloblastoma. – 2019-09-20

    Medulloblastoma is a malignant pediatric tumor that arises from neural progenitors in the cerebellum. Despite a five-year survival rate of ~70%, nearly all patients incur adverse side eff Read more

     Study 4 / 7

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    Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection. – 2019-10-11

    Deregulation of transcription factors (TFs) is an important driver of tumorigenesis, but non-invasive assays for assessing transcription factor activity are lacking. Here we develop and v Read more

     Study 5 / 7

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    The molecular origin and taxonomy of mucinous ovarian carcinoma. – 2019-09-02

    To perform genetic and gene expression analyses on mucinous ovarian tumours to determine a progression model, cell of origin and novel therapeutic targets. Read more

     Study 6 / 7

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    Pheno-seq - linking visual features and gene expression in 3D cell culture systems. – 2019-08-26

    Patient-derived 3D cell culture systems are currently advancing cancer research since they potentiate the molecular analysis of tissue-like properties and drug response under well-defined Read more

     Study 7 / 7

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  • What is in the EGA?