5 Matching Annotations
  1. May 2023
    1. 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).

    2. 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

  2. Mar 2017
  3. Sep 2016