Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes

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Authors: de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S

Journal title: Genet Med.

Journal number: 25(3):100345.

Journal publisher: Lippincott Williams & Wilkins Ltd.

Published year: 2023

DOI identifier: 10.1016/j.gim.2022.11.013

ISSN: 1098-3600