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A collaborative, exploratory project to help understand phenotypes of human mutations in the context of sequence and functional data from genome projects. PhenCode connects human phenotype and clinical data in various locus-specific databases (LSDBs) with data on genome sequences, evolutionary history, and function from the ENCODE project and other resources in the UCSC Genome Browser.

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Center for Comparative Genomics and Bioinformatics, Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania; National Human Genome Research Institute, Bethesda, Maryland; Center for Biomolecular Science and Engineering, University of California, Santa Cruz, Santa Cruz, California; Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins University, Baltimore, Maryland; Erasmus Medical Center, Faculty of Medicine, Department of Cell Biology and Genetics, Rotterdam, The Netherlands; Weatherall Institute of Molecular Medicine, Oxford, United Kingdom; Department of Medicine, Boston University, Boston, Massachusetts; Montreal Children’s Hospital Research Institute, Montreal, Quebec, Canada; Department of Chemistry, Albert Einstein College of Medicine, Bronx, New York; Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montreal, Quebec, Canada; Institute of Medical Technology, University of Tampere, Tampere, Finland; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania

  • (Giardine et al., 2007) PhenCode: connecting ENCODE data with mutations and phenotype. Human mutation.
    PMID: 17326095
  • Animals
    • Homo sapiens
  • (Johnston and Biesecker, 2013) Databases of genomic variation and phenotypes: existing resources and future needs. Human molecular genetics.
    PMID: 23962721

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