Article

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

2019-08-21

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> 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 we believe are a major contributor to unsolved IRD cases. <h4>Methods</h4> Five hundred IRD patie...

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Literature Corpus work: b4a884af-149b-5e2e-a30a-e6e39bef74b0
DOI: 10.1101/742106

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