Study Description

In this study we have performed exome sequencing using the hybrid capture method that has previously been described (Gnirke et al.,... Show More

Study Accession Alternative Stable ID type
phs000474.v1.p1 dbGaP Probands; Mendelian; Family

Who controls access to this study

National Human Genome Research Institute
Access information:


Data provider(s)

  • Title Name Institute
    Principal Investigator Hanna Gazda Children's Hospital Boston, Boston, MA, USA
    Funding Source U54 HG003067 National Human Genome Research Institute, National Institues of Health, Bethesda, MD, USA

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)