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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Whole-genome sequencing of rare disease patients in a national healthcare system

Whole-genome sequencing of rare disease patients in a national healthcare system

Request Access

DUO:0000026
version: 2019-01-07

user specific restriction

This data use modifier indicates that use is limited to use by approved users.

DUO:0000027
version: 2019-01-07

project specific restriction

This data use modifier indicates that use is limited to use within an approved project.

DUO:0000028
version: 2019-01-07

institution specific restriction

This data use modifier indicates that use is limited to use within an approved institution.

DUO:0000029
version: 2019-01-07

return to database or resource

This data use modifier indicates that the requestor must return derived/enriched data to the database/resource.

DUO:0000042
version: 2019-01-07

general research use

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

NIHR-BR-RD Data Access Policy

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
EGAS00001004364 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
EGAF00003593439 fq.gz 844.6 MB
EGAF00003593440 fq.gz 824.1 MB
2 Files (1.7 GB)