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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Identifying causative mutations for Thrombocytopenia with Absent Radii

Identifying causative mutations for Thrombocytopenia with Absent Radii

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DUO:0000042
version: 2021-02-23

general research use

This data use permission indicates that use is allowed for general research use for any research purpose.

http://www.sanger.ac.uk/datasharing/

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
EGAS00001000054 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
EGAF00000067989 bam 8.1 GB Report
EGAF00000067990 bam 12.5 GB Report
EGAF00000067991 bam 7.9 GB Report
EGAF00000067992 bam 13.0 GB Report
EGAF00000067993 bam 8.0 GB Report
EGAF00000067994 bam 13.2 GB Report
EGAF00000067995 bam 8.1 GB Report
EGAF00000067996 bam 13.3 GB Report
EGAF00000067997 bam 13.5 GB Report
EGAF00000067998 bam 8.4 GB Report
10 Files (106.0 GB)