Karolinska Institutet Rare diseases group DAC

Dr Jesper Eisfeldt
jesper.eisfeldt@scilifelab.se

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Dataset ID	Description	Technology	Samples
EGAD50000000635	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.	unspecified	6
EGAD50000000676	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.	unspecified	16