Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.

ABSTRACT: Rare or de novo structural variation, primarily in the form of copy number variants, is detected in 5%-10% of autism spectrum disorder (ASD) families. While complex structural variants involving duplications can generally be detected using microarray or short-read genome sequencing (GS), these methods frequently fail to characterize breakpoints at nucleotide resolution, requiring additional molecular methods for validation and fine-mapping. Here, we use Oxford Nanopore Technologies PromethION long-read GS to characterize complex genomic rearrangements (CGRs) involving large duplications that segregate with ASD in five families. In total, we investigated 13 CGR carriers and were able to resolve all breakpoint junctions at nucleotide resolution. While all breakpoints were identified, the pre

SUBMITTER: Eisfeldt J 

PROVIDER: S-EPMC11610597 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature