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
phs000538.v1.p1 dbGaP Family

Who controls access to this study

National Human Genome Research Institute
Access information:

Publications

Data provider(s)

  • Title Name Institute
    Principal Investigator Gail Jarvik, MD, PhD University of Washington, Seattle, WA, USA
    Funding Source HI30086 National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
    Funding Source 265508 Northwest Institute of Genetic Medicine, Washington State Life Sciences Discovery Funds, Seattle, WA, 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)