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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
    2
    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
    2. Gedof 13 May 2023
      Structural variants (SVs) play an important role in inherited retinal diseases (IRD).

      Structural variants, specifically CNVs (Copy Number Variants) contribute to more than 10% of undiagnosed IRD cases

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