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Dataset

Whole exome sequencing of an alveolar rhabdomyosarcoma patient with RET germline mutation

Dataset ID Technology Samples
EGAD00001006125 Illumina HiSeq 4000 4

Dataset Description

Whole exome sequencing of an alveolar rhabdomyosarcoma patient with RET germline mutation and subsequent analysis of potential therapeutic mechanisms associated with the patient's rare germline mutation. Patient sampels were sequenced from an initial biopsy and from a relapse biopsy, in addition to normal blood as the matched normal DNA. RNA sequencing was performed on the relapse sample as initial sample was unable to produce usable RNA for analysis.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Children's Cancer Therapy Development Institute DAC
Contact person: Charles Keller
Email: charles [at] cc-tdi [dot] org
More details: EGAC00001001581

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