1. From: Dependable and Efficient Clinical Utility of Target Capture-Based Deep Sequencing in Molecular Diagnosis of Retinitis Pigmentosa
Invest. Ophthalmol. Vis. Sci ;55(10): doi: /iovs
Figure Legend:
EYS exonic deletion detected by MPS and confirmed by array CGH. (A) MPS exonic coverage profile for the EYS gene. Exon 14 had no coverage, suggesting a homozygous deletion. (B) Targeted array CGH detected a loss of copy number in exon 14. No copy number variations were detected in other exons of the EYS gene. (C) Enlarged view of exon 14 from array CGH. The log2 ratios for the probes in the deleted region are consistent with a homozygous deletion.
Date of download: 11/3/2017
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