Research Article
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies
Table 2
Validation of IROme by APEX.
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The nucleotides (nt) tested by APEX represent validated RP-linked mutations or variants. The mean coverage (cvg) refers to the average of the coverage of all exons where the mutations are located. The percentage of sequence reads generated by IROme and correctly calling the nucleotides at homozygous state are indicated. |