cytogenetically visibile inversions

Pacbio Hifi whole genome sequencing data from six individuals carrying cytogenetically visible inversions. The HiFi data was produced on the PacBio Revio machine, using 1 flowcell per sample. The resulting data was aligned to hg19 using minimap2, and converted into bam using samtools.

23/08/2024
6 samples
DAC: EGAC50000000175
Technology: unspecified

Access Policy1 Study Files

Metadata

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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
EGAS50000000436	Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions	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
EGAF50000149701	bam	47.7 GB
EGAF50000149702	bam	41.5 GB
EGAF50000149703	bam	54.9 GB
EGAF50000149704	bam	50.7 GB
EGAF50000149705	bam	48.3 GB
EGAF50000149706	bam	49.3 GB
6 Files (292.3 GB)