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Study Description

This study analyzed samples from 29 patients with juvenile myelomonocytic leukemia (JMML) using whole exome sequencing. Each patient had a paired germline tissue along with a diagnostic leukemia sample. Germline tissue types included buccal mucosa, cordblood, Epstein-Barr virus immortalized cell lines and fibroblasts from either skin or bone marrow. Leukemia samples were either blood or bone marrow. Seven of the 29 patients also had a relapsed leukemia sample available for exome analysis.

Authorized Access
Publicly Available Data
  Link to other NCBI resources related to this study
Study Inclusion/Exclusion Criteria

Patients diagnosed with juvenile myelomonocytic leukemia (JMML) were included for analysis.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Illumina HiSeq 2000 N/A N/A
Study History

January 2012 - Project initiated
August 2015 - Project completed

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Genes
Authorized Data Access Requests
See research articles citing use of the data from this study
Study Attribution
  • Principal Investigator
    • Mignon Loh, MD. University of California, San Francisco, CA, USA.
  • Funding Source
    • 6059-09. Leukemia and Lymphoma Society, Rye Brook, NY, USA.
    • T32CA128583. National Institutes of Health, Bethesda, MD, USA.
    • R01CA173085. National Institutes of Health, Bethesda, MD, USA.