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

    Clonal History and Genetic Predictors of Transformation Into Small-Cell Carcinomas From Lung Adenocarcinomas. – JUN 2017

    Purpose Histologic transformation of EGFR mutant lung adenocarcinoma (LADC) into small-cell lung cancer (SCLC) has been described as one of the major resistant mechanisms for epidermal gr Read more

     Study 1 / 6

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    The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data. – JUN 2017

    A resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series Read more

     Study 2 / 6

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    Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types. – May 2017

    Cancer is a disease of complex genetic alterations, and comprehensive genetic diagnosis is beneficial to match each patient to appropriate therapy. However, acquisition of representative Read more

     Study 3 / 6

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    A new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma. – JUN 2017

    Pilocytic astrocytoma (PA) is the most common pediatric brain tumor. A recurrent feature of PA is deregulation of the mitogen activated protein kinase (MAPK) pathway most often through KI Read more

     Study 4 / 6

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    Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. – May 2017

    Children with Down syndrome (DS) are prone to development of high-risk B-cell precursor ALL (DS-ALL), which differs genetically from most sporadic pediatric ALLs. Increased expression of Read more

     Study 5 / 6

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    Genome-to-genome analysis highlights the effect of the human innate and adaptive immune systems on the hepatitis C virus. – May 2017

    Outcomes of hepatitis C virus (HCV) infection and treatment depend on viral and host genetic factors. Here we use human genome-wide genotyping arrays and new whole-genome HCV viral sequen Read more

     Study 6 / 6

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