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Optical Genome Mapping and Revisiting Short-Read Genome Sequencing Data Reveal Previously Overlooked Structural Variants Disrupting Retinal Disease- Associated Genes

Suzanne E. de Bruijn,Kim Rodenburg,Jordi Corominas,Tamar Ben-Yosef,Janine Reurink,Hannie Kremer,Laura Whelan,Astrid S. Plomp,Wolfgang Berger,G. Jane Farrar,Arpaed Ferenc Kovaecs,Isabelle Fajardy,Rebekkah J. Hitti-Malin,Nicole Weisschuh,Marianna E. Weener,Dror Sharon,Ronald J. E. Pennings,Lonneke Haer-Wigman,Carel B. Hoyng,Marcel R. Nelen,Lisenka E. L. M. Vissers,L. Ingeborgh van den Born,Christian Gilissen,Frans P. M. Cremers,Alexander Hoischen,Kornelia Neveling,Susanne Roosing

GENETICS IN MEDICINE（2023）

Cited 24|Views70
Key words
Inherited retinal diseases,Optical genome mapping,Next-generation sequencing,Short-read genome sequencing,Structural variants
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