Integrative optical genome mapping and long-read sequencing dissect a pathogenic complex structural variant in a multigenerational Chinese retinitis pigmentosa pedigree.

Authors

Yuqiao Ju, Cong Duan, Kaixin Chen, Qing Chang, Yuan Zong, Fengjuan Gao, Ge-Zhi Xu

Published in

Genes & diseases. Volume 13. Issue 6. Pages 102008. Epub Dec 23, 2025.

PMID:
42437051
Bibliographic data and abstract were imported from PubMed on 12 Jul 2026.

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