ID
45901
Description
Principal Investigator: Mignon Loh, MD, University of California, San Francisco, CA, USA MeSH: Leukemia, Myelomonocytic, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000973 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.
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Versions (1)
- 12/12/23 12/12/23 - Simon Heim
Copyright Holder
Mignon Loh, MD, University of California, San Francisco, CA, USA
Uploaded on
December 12, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000973 The Genomic Landscape of Juvenile Myelomonocytic Leukemia
This sample attributes table contains sample ID, sample type, sample origin, analyte type, and tissue type.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject ID, gender, age, primary disease, laboratory measurements (n= 7 variables; white blood count, absolute monocyte count, platelet count, fetal hemoglobin levels, missing a copy of chromosome 7 or not, abnomal enlargement of the spleen or not, and abnomal enlargement of the liver or not), patient treatment, outcome of the treatment, and status of patient at the time of study.
- This sample attributes table contains sample ID, sample type, sample origin, analyte type, and tissue type.
Similar models
This sample attributes table contains sample ID, sample type, sample origin, analyte type, and tissue type.
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject ID, gender, age, primary disease, laboratory measurements (n= 7 variables; white blood count, absolute monocyte count, platelet count, fetal hemoglobin levels, missing a copy of chromosome 7 or not, abnomal enlargement of the spleen or not, and abnomal enlargement of the liver or not), patient treatment, outcome of the treatment, and status of patient at the time of study.
- This sample attributes table contains sample ID, sample type, sample origin, analyte type, and tissue type.
C1299222 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,2])
C4525747 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,2])
C1292533 (UMLS CUI [1,3])