Study
Relapse series of two Pediatric ALL patients
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001005001 | Other |
Study Description
In this proof of principle study, we performed whole genome sequencing of two cases with multiple relapses in order to investigate whether groups of mutations separated in time show distinct mutational signatures. In patient 1, who experienced two relapses, the analysis unraveled a continuous interplay of aberrant AID/APOBEC-associated activities. Patient 2 had three relapses. We identified episodic mutational processes at diagnosis and first relapse leading to mutations resembling UV light-driven DNA damage, and thiopurine-associated damage at first relapse.
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001006948 |
In this proof of principle study, we performed whole genome sequencing of two cases with multiple relapses in order to investigate whether groups of mutations separated in time show distinct mutational signatures. In patient 1, who experienced two relapses, the analysis unraveled a continuous interplay of aberrant AID/APOBEC-associated activities. Patient 2 had three relapses. We identified episodic mutational processes at diagnosis and first relapse leading to mutations resembling UV ... (Show More)
|
Illumina NovaSeq 6000 | 10 |
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