Study Description

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.Show More


Study Accession Alternative Stable ID type
phs000539.v1.p1 dbGaP Case Set

Who controls access to this study

National Human Genome Research Institute
Access information:


Data provider(s)

  • Title Name Institute
    Principal Investigator Lydia Aguilar-Bryan, MD, PhD Pacific Northwest Diabetes Research Institute, Seattle, WA, USA
    Funding Source Thrasher Fund Grant Thrasher Research Fund, Salt Lake City, UT, USA
    Sequencing Center Northwest Genomics Center (NWGC; Director: Deborah Nickerson) University of Washington, Seattle, WA, USA
    Funding Source for Sequencing HG005608 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)