ID
45802
Description
Principal Investigator: Richard K. Wilson, PhD, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA MeSH: Neoplasms,Leukemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001066 We used massively parallel sequencing technology to profile the genomic DNA and RNA of tumor cells (leukemic bone marrow) and normal cells (skin biopsy) obtained from a single patient with Acute Lymphoblastic Leukemia (ALL), referred to throughout this study as 'ALL1'. Included in this study are samples obtained from a primary tumor, first relapse, second relapse and several intermediate timepoints. We identified somatic mutations present in each tumor by analysis of whole genome (WGS) and exome sequence data. Single nucleotide variants (SNVs) and small insertions and deletions were identified in both the exome and WGS data. Large copy number variations (CNVs) and structural variants (SVs) were identified in the WGS data. A custom capture reagent was designed to target most variants and used to generate deep validation sequence data. The expression status of all somatic variants was assessed by RNA-seq. The RNA-seq data was also used for gene expression analysis and gene fusion detection.
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Versions (1)
- 6/23/23 6/23/23 - Chiara Middel
Copyright Holder
Richard K. Wilson, PhD, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
Uploaded on
June 23, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001066 DNA and RNA Sequence of an Acute Lymphoblastic Leukemia
Subject ID, consent group, and affection status of participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- StudyEvent: SEV1
- Subject ID, consent group, and affection status of participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- Subject ID, sample ID, and sample use variable obtained from participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- Subject ID and gender of participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- Sample ID, histological type of sample, analyte type, sample tissue type, and tumor status of sample obtained from participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
Similar models
Subject ID, consent group, and affection status of participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- StudyEvent: SEV1
- Subject ID, consent group, and affection status of participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- Subject ID, sample ID, and sample use variable obtained from participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- Subject ID and gender of participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
- Sample ID, histological type of sample, analyte type, sample tissue type, and tumor status of sample obtained from participants with acute lymphoblastic leukemia and involved in the "Whole genome, exome, transcriptome and validation sequencing of an acute lymphoblastic leukemia" project.
C2348585 (UMLS CUI [1,2])
C0023449 (UMLS CUI [1,2])