IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

<table class="table-group" id="tab2"><tr><td><table class="table"><tr><td class="thead-hr" colspan="5"><hr/></td></tr><tr class="thead"><td align="left">Pat <br/>number</td><td align="center">nt tested <br/>by APEX</td><td align="center">nt detected <br/>by IROme</td><td align="center">Mean <br/>cvg</td><td align="center">% reads <br/>homo</td></tr><tr><td class="thead-hr" colspan="5"><hr/></td></tr><tr><td align="left">1</td><td align="center">557</td><td align="center">100%</td><td align="center">25</td><td align="center">98.9</td></tr><tr><td align="left">2</td><td align="center">558</td><td align="center">100%</td><td align="center">26</td><td align="center">99.4</td></tr><tr><td align="left">3</td><td align="center">558</td><td align="center">100%</td><td align="center">22</td><td align="center">99.2</td></tr><tr><td align="left">4</td><td align="center">547</td><td align="center">100%</td><td align="center">20</td><td align="center">98.3</td></tr><tr class="table-tr"><td colspan="5"><hr class="tbody-hr"/></td></tr></table></td></tr><tr class="table-fn"><td>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. <br/></td></tr></table>

BioMed Research International

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Table 2

Table 2: IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies 