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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
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.
- Study Design:
- Collection
- Study Type:
- Collection
- Total number of consented subjects: 29
- Subject Sample Telemetry Report (SSTR)
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- 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
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment 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)
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- Primary Phenotype: Leukemia, Myelomonocytic, Juvenile
- Links to Related Genes
- Authorized Data Access Requests
- Study Attribution
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Principal Investigator
- Mignon Loh, MD. University of California, San Francisco, CA, USA.
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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.
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Principal Investigator