Long-read trio sequencing Team Data Access Commitee

Datastewardship Human Genetics
datastewardship.gen@radboudumc.nl

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Dataset ID	Description	Technology	Samples
EGAD00001006050	5 trios were whole genome sequenced with PacBio Sequel to a depth of 15X (Trios 1-4) or 40X (Trio 5). For each trio the child was affected with severe ID, and the parents were unaffected. Dataset consists of Trio 2 samples: T2P, T2F and T2M	Sequel	15
EGAD50000002913	This dataset contains long-read whole-genome sequencing data from 30 individuals comprising 10 parent-offspring trios, in which each index case carries a recurrent CNV at the 15q13.3 locus (BP4-BP5 deletion or duplication, or a smaller CHRNA7 deletion or duplication). PacBio HiFi data were generated for all 30 individuals on a Revio instrument and are provided as unaligned BAM files. Oxford Nanopore ultra-long data were additionally generated for three individuals on a PromethION and are provided as FASTQ files. All DNA was extracted from blood; the data were produced to resolve CNV breakpoints, parental haplotypes and the structural background of the locus.	PromethION Revio	30