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  1. May 2023
  2. www.gimjournal.org www.gimjournal.org
    Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
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    1. Gedof 13 May 2023
      Figure 1Optical genome mapping reveals 173 Mb pericentric inversion on chromosome 1 with a breakpoint within the USH2A gene.

      Optical Genome mapping can detect balanced structural variant as shown in previous studies. Fadaie Z, et al; 2021 amazingly identified an intragenic inverted duplication by OGM and Long read sequencing (Pacbio).

      SV/ CNVs in inherited retinal disease
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    gimjournal.org/article/S1098-3600(22)01029-2/fulltext