ID

45901

Beschrijving

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.

Link

dbGaP study = phs000973

Trefwoorden

  1. 12-12-23 12-12-23 - Simon Heim
Houder van rechten

Mignon Loh, MD, University of California, San Francisco, CA, USA

Geüploaded op

12 december 2023

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000973 The Genomic Landscape of Juvenile Myelomonocytic Leukemia

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.

pht004988
Beschrijving

pht004988

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschrijving

SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beschrijving

SAMPID

Datatype

string

Alias
UMLS CUI [1,1]
C1299222
Sample use type. Seq_DNA_SNP_MAF_Ind: Sample(s) were used to generate aggregate mutation annotation file (.maf) with individual SNP genotypes; Seq_DNA_WholeExome: Whole exome sequencing
Beschrijving

SAMPLE_USE

Datatype

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063
UMLS CUI [1,3]
C1527094
UMLS CUI [1,4]
C3640077

Similar models

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.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht004988
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_USE
Item
Sample use type. Seq_DNA_SNP_MAF_Ind: Sample(s) were used to generate aggregate mutation annotation file (.maf) with individual SNP genotypes; Seq_DNA_WholeExome: Whole exome sequencing
string
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C1527094 (UMLS CUI [1,3])
C3640077 (UMLS CUI [1,4])

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