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Distinct mechanisms of CNV formation at the human 15q13.3 locus

The human chromsome 15q13.3 locus is one of the most unstable genomic regions of the human genome and leads to recurrent disease, but the molecular underpinnings of this instability is poorly understood. We generated long-read sequencing data for 10 patient-parent trios carrying 15q13.3 CNVs to resolve CNVs at basepair precision and identify sequence properties that predispose to CNV formation.

Type: Whole Genome Sequencing
Archive: European Genome-phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
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