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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A first step towards clinical routine long-read sequencing in Sweden, a national pilot study on chromosomal rearrangements

PacBio HiFi Revio WGS data from 16 individuals sequenced in the Genomic Medicine Sweden (GMS) Long read project. Each individual was sequenced on one PacBio Revio SMRT cell. The DNA was extracted from blood. The HiFi data was aligned to GRCh38 using minimap2 or the SMRT-link software.

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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
EGAS50000000468 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
EGAF50000149701 bam 47.7 GB Report
EGAF50000158825 bam 35.4 GB Report
EGAF50000158826 bam 43.8 GB Report
EGAF50000158827 bam 37.1 GB Report
EGAF50000158828 bam 28.8 GB Report
EGAF50000158829 bam 28.3 GB Report
EGAF50000158830 bam 23.3 GB Report
EGAF50000158831 bam 42.3 GB Report
EGAF50000158832 bam 34.3 GB Report
EGAF50000158833 bam 34.4 GB Report
EGAF50000158834 bam 40.8 GB Report
EGAF50000158835 bam 44.1 GB Report
EGAF50000158836 bam 38.6 GB Report
EGAF50000158837 bam 39.8 GB Report
EGAF50000158838 bam 29.3 GB Report
EGAF50000158839 bam 38.6 GB Report
16 Files (586.7 GB)