Article

Screening Copy Number Variations in 35 unsolved Inherited Retinal Disease Families

2023-09-18

Abstract excerpt

The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) families. Initially, Next generation sequencing, including a specific Hereditary Eye Disease Enrichment Panel or Whole exome sequencing, was employed to screen (likely) pathogenic Single-nucleotide Variants (SNVs) and small Insertions and Deletions (indels) for these cases. All available SNVs and...

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Literature Corpus work: d209aaa5-2ba0-5afc-a807-a1b8dd8e8072
DOI: 10.21203/rs.3.rs-3343281/v1

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