STUDY: Familial Exome Sequencing in Rare Pediatric Phenotypes

Study Description

To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic... Show More

Study Accession Alternative Stable ID type
phs000553.v1.p1 dbGaP Parent-Offspring Trios

Who controls access to this study

National Heart, Lung, and Blood Institute DAC
Access information:

Publications

Data provider(s)

  • Title Name Institute
    Principal Investigators F. Sessions Cole, MD Washington University School of Medicine, St. Louis, MO, USA
    Principal Investigators Todd E. Druley, MD, PhD Washington University School of Medicine, St. Louis, MO, USA
    Funding Source R01 HL065714 National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)