Abstract

High quality and comprehensive next-generation sequencing (NGS)-based genetic testing is essential in the diagnosis of inherited eye diseases (IEDs), due to their genetic heterogeneity and the need to establish a molecular diagnosis for targeted therapy selection.

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We developed and validated a robust whole exome sequencing (WES) based genetic testing platform, with boosted clinical content tailored to IEDs, and assessed the diagnostic yield of this assay in a large cohort of patients with IED.

The WES assay showed high average sequencing depth and coverage, and excellent sensitivity for SNVs, INDELs and CNVs. There was uniform coverage over difficult-to-sequence regions, including RPGR ORF15 and GC-rich 1st exons.

Based on this assay, 23 phenotype-specific gene panels were curated covering 438 unique genes. A 266 gene RD panel derived from this assay yielded a diagnosis in 58% of IED cases.

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Keywords: whole exome sequencing (WES), diagnostic yield, inherited eye diseases (IEDs), next-generation sequencing (NGS) panels

Authors: Kati Kämpjärvi, Kirsty Wells, Miika Mehine, Johanna Känsäkoski, Laura Sarantaus, Hanna Västinsalo, Jennifer Schleit, Inka Saarinen, Mikko Muona, Samuel Myllykangas, Tero-Pekka Alastalo, Juha Koskenvuo, Jussi Paananen and Sari Tuupanen