Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

ABSTRACT:

Purpose

Current sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, including copy-number variations (CNVs), which have been shown as major contributors to unsolved IRD cases.

Methods

Five hundred IRD patients were analyzed with targeted next-generation sequencing (NGS). The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide polymorphism (SNP) array. Likely causal CNV predictions were validated by quantitative polymerase chain reaction (qPCR).

Results

Likely disease-causing single-nucleotide variants (SNVs) and smal

SUBMITTER: Zampaglione E 

PROVIDER: S-EPMC7272325 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature