Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort.

Structural variants (SVs) contribute to the genetic architecture of autism spectrum disorder (ASD), but their comprehensive characterization is limited by technological challenges in their detection. Optical genome mapping (OGM) offers a promising alternative, enabling the identification of large-scale SVs that might be overlooked by traditional sequencing methods. This study aimed to use OGM to identify SVs associated with ASD. We generated in-house OGM data from 26 participants diagnosed with ASD, leading to the discovery of 1593 novel SVs. Among them, 114 novel SVs were identified in at least two non-sibling participants, with 57 of them putatively overlapping known gene regions. To validate our findings, two novel SVs were confirmed by Sanger sequencing. The dataset generated in this study can serve as a novel and valuable resource for future research and facilitate the exploration of SVs related to ASD. Our work also underscores the importance of large-scale genomic rearrangements in neurodevelopmental disorders and provides insights into SVs as potential molecular diagnostic and therapeutic targets for ASD.