Data Access Commitee of the Princess Maxima Center for Pediatric Oncology

Roland Kuiper
r.kuiper@prinsesmaximacentrum.nl

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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 light-driven DNA damage, and thiopurine-associated damage at first relapse.	Illumina NovaSeq 6000	10
EGAD00001008309	Sequencing data (BAM/CRAM) of diagnosis-relapse pairs of 12 children who relapsed very early, followed by a deep-sequencing validation of all identified mutations.	Illumina HiSeq 4000 NextSeq 500 unspecified	88