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Study Description

In this study we have performed exome sequencing using the hybrid capture method that has previously been described (Gnirke et al., Nature Biotechnology, 2009) on genomic DNA samples from patients with the congenital bone marrow failure syndrome that affects the erythroid lineage, specifically, Diamond-Blackfan anemia. This disease is characterized by a hypoplastic anemia and approximately 50% of cases are attributable to mutations in ribosomal protein gene subunits. The other 50% of cases do not have a known genetic etiology and the purpose of this study is to attempt to delineate such causes.

  • Study Types: Probands, Mendelian, Family
  • Number of study subjects that have individual level data available through Authorized Access: 147

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

We have selected probands with Diamond-Blackfan anemia diagnosed based upon clinical and laboratory criteria and have excluded patients with known genetic mutations. Details of this cohort that was used in this study have been described in prior publications (Gazda et al., Am J Hum Genet, 2008).

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Sequencing Agilent SureSelect Human All Exon v.2 Kit N/A N/A
Study History

Please see description above for history and appropriate references.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution
  • 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