OFC-SV: Interpreting structural variants in African and Asian cohorts with non-syndromic orofacial clefts

Authors

Chen, K., Chung, Y., Becker, T., Bayarsaihan, D., Shin, D.-G.

Abstract

OFC-SV is a web-based data portal designed to help interpret structural variants (SVs) in non-syndromic orofacial clefts genomic data published by The Gabriella Miller Kids First Pediatric Research Program. The portal offers a user-friendly way to explore 41 novel SV genes (of these 13 sharing regulatory perturbations already reported in the literature as SNV genes) potentially responsible for non-syndromic OFC (nsOFC) from a cohort of children of African and Asian ancestry. A salient feature of the portal is its unique ability to capture epigenomic disruptions and complex oligogenic interactions in visualized regulatory pathways, thus advancing the frontier of disease etiology through convenient translation of computational signals into biological interpretations.

Preprint server: bioRxiv
The authors list and abstract were imported from bioRxiv on 21 Oct 2026.

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