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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BAM files corresponding to PARN mutations identified in Hoyeraal-Hreidarsson syndrome patients

BAM files corresponding to PARN mutations identified in Hoyeraal-Hreidarsson syndrome patients

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Committee that decid eof the data accession

For each dataset that requires access control, there is a corresponding Data Access Committee (DAC) who determine access permissions. Data access requests are reviewed by the relevant DAC, not by the EGA. If you need to request access to this data set, please contact: Genome dynamics in the immune system lab-Imagine contact person: Patrick Revy Email: patrick.revy@inserm.fr

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
EGAS00001003623 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
EGAF00002531247 bam 877.8 kB Report
EGAF00002531248 bam 934.2 kB Report
2 Files (1.8 MB)