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

    Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease – 30 January 2017

    Genetic association studies have identified 215 risk loci for inflammatory bowel disease thereby uncovering fundamental aspects of its molecular biology. We performed a genome-wide associ Read more

     Study 1 / 7

    Published in:
  • Latest studies

    Prevalence and architecture of de novo mutations in developmental disorders – 25 January 2017

    The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced th Read more

     Study 2 / 7

    Published in:
  • Latest studies

    Tissue-specific mutation accumulation in human adult stem cells during life – 13 October 2016

    The gradual accumulation of genetic mutations in human adult stem cells (ASCs) during life is associated with various age-related diseases, including cancer1, 2. Extreme variation in canc Read more

     Study 3 / 7

    Published in:
  • Latest studies

    Landscape of somatic mutations in 560 breast cancer whole-genome sequences – May 2, 2016

    A comprehensive characterisation and analysis of 560 human breast cancers through genome-wide approaches including genomics, transcriptomics and epigenomics. Read more

     Study 4 / 7

    Published in:
  • Latest studies

    The genetic architecture of type 2 diabetes – July 11, 2016

    The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide a Read more

     Study 5 / 7

    Published in:
  • Latest studies

    A genomic history of Aboriginal Australia – 13 October 2016

    The population history of Aboriginal Australians remains largely uncharacterized. Here we generate high-coverage genomes for 83 Aboriginal Australians (speakers of Pama–Nyungan language Read more

     Study 6 / 7

    Published in:
  • Latest studies

    The Simons Genome Diversity Project: 300 genomes from 142 diverse populations – 13 October 2016

    Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs Read more

     Study 7 / 7

    Published in:
  • What is in the EGA?