Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

ConclusionsThe presence of multiple different deletion alleles in our cohort suggests that largeCLCNKB gene deletions originated from many independently recurring genomic events clustered in a few hot spots. The uncovered associated sequence transposition haplotype apparently predisposes to these additional events.The spectrum ofCLCNKB deletion alleles is broader than expected and likely still incomplete, but represents an obvious candidate for future genotype/phenotype association studies.We suggest a sensitive and cost-efficient approach, consisting of indirect sequence capture and long-read sequencing, to analyse disease-relevant structural variant hotspots in general.

Source: Genome Medicine - August 23, 2023 Category: Genetics & Stem Cells Source Type: research