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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PacBio Revio WGS on 10 carriers of ring and marker chromosomes

Bam files containing PacBio HiFi reads from carriers of ring and marker chromosomes. The reads where genereated using the PacBio Revio platform. Each individual was sequenced to roughly 30X coverage on one flow cell per individual. The chromosome of interest is indicated in the file name.

Request Access

DUO:0000018
version: 2021-02-23

not for profit, non commercial use only

This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.

DUO:0000021
version: 2021-02-23

ethics approval required

This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.

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.

Data sharing policy for the rare diseases group at Karolinska Institutet

Data will be available upon request to the DAC if corresponding to the Ethics agreements

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
EGAS50000001466 Whole Genome Sequencing

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
EGAF50000508283 bam 1.9 GB
EGAF50000508284 bam 2.2 GB
EGAF50000508285 bam 2.2 GB
EGAF50000508286 bam 1.6 GB
EGAF50000508287 bam 2.3 GB
EGAF50000508288 bam 2.2 GB
EGAF50000508289 bam 2.1 GB
EGAF50000508290 bam 2.8 GB
EGAF50000508291 bam 951.6 MB
EGAF50000508292 bam 1.8 GB
10 Files (19.9 GB)