arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Caroline Van CauwenberghKristof Van SchilRobrecht CannoodtMiriam BauwensThalia Van LaethemSarah De JaegereWouter SteyaertTom SanteBjörn MentenBart P LeroyFrauke CoppietersElfride De BaerePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The arrEYE platform revealed subtle single-exon to larger CNVs in iRD genes that could be characterized at the nucleotide level, facilitated by the high resolution of the platform. We report the first CNV in HGSNAT that, combined with another mutation, leads to RP, further supporting its recently identified role in nonsyndromic iRD.Genet Med 19 4, 457-466.
Keyphrases
- copy number
- high resolution
- genome wide
- mitochondrial dna
- high throughput
- optical coherence tomography
- diabetic retinopathy
- dna methylation
- mass spectrometry
- bioinformatics analysis
- genome wide identification
- optic nerve
- early onset
- tandem mass spectrometry
- high speed
- gene expression
- transcription factor
- liquid chromatography