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.
- 23/08/2024
- 16 samples
- DAC: EGAC50000000175
- Technology: unspecified
- NPUNCU DUO:0000018 (version: 2021-02-23)not for profit, non commercial use onlyThis data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
- IRB DUO:0000021 (version: 2021-02-23)ethics approval requiredThis data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.
- GRU DUO:0000042 (version: 2021-02-23)general research useThis 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 | Located in | |
|---|---|---|---|---|
| EGAF50000149701 | bam | 47.7 GB | ||
| EGAF50000158825 | bam | 35.4 GB | ||
| EGAF50000158826 | bam | 43.8 GB | ||
| EGAF50000158827 | bam | 37.1 GB | ||
| EGAF50000158828 | bam | 28.8 GB | ||
| EGAF50000158829 | bam | 28.3 GB | ||
| EGAF50000158830 | bam | 23.3 GB | ||
| EGAF50000158831 | bam | 42.3 GB | ||
| EGAF50000158832 | bam | 34.3 GB | ||
| EGAF50000158833 | bam | 34.4 GB | ||
| EGAF50000158834 | bam | 40.8 GB | ||
| EGAF50000158835 | bam | 44.1 GB | ||
| EGAF50000158836 | bam | 38.6 GB | ||
| EGAF50000158837 | bam | 39.8 GB | ||
| EGAF50000158838 | bam | 29.3 GB | ||
| EGAF50000158839 | bam | 38.6 GB | ||
| 16 Files (586.7 GB) | ||||