Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
- Resource Type
- Article
- Authors
- de Bruijn, Suzanne E.; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Ferenc Kovács, Árpád; Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J.E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E.L.M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P.M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne
- Source
- In Genetics in Medicine March 2023 25(3)
- Subject
- Language
- ISSN
- 1098-3600