About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with Constitutional Mismatch Repair Deficiency

Molecular characterization of 41 tumors from 17 individuals with CMMRD to gain a better understandig of mutational processes driving subsequent tumor development. The molecular characterization includes the investigation of tumor mutational load and mutational signatures.

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DUO:0000007
version: 2021-02-23

disease specific research

This data use permission indicates that use is allowed provided it is related to the specified disease.

ModifiersMONDO_0006517

Data Access Agreement of data controlled by the Data Access Commitee of the Princess Maxima Center for Pediatric Oncology

The Princess Maxima Center for pediatric oncology default access policy to enable re-production of research and re-use of data for scientific purposes. Please contact the DAC (EGAC00001001864) for the most up to date policies.

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001007660 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Quality Report
Located in
i
EGAF00008776346 cram 15.6 GB
EGAF00008776347 cram 7.4 GB
2 Files (23.0 GB)