GenomicsGenetics in MedicinePeer-reviewed
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Erin Zampaglione, Benyam Kinde, Emily Place…·Kinga M. Bujakowska
The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.
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