Article
Detection of Large Structural Variants Causing Inherited Retinal Diseases.
Advances in experimental medicine and biology - 1 Jan 2019
Daiger Stephen P, Sullivan Lori S, Bowne Sara J, Cadena Elizabeth D, Koboldt Dan, Bujakowska Kinga M, Pierce Eric A
Abstract excerpt
Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85% of patients with inherited retinal diseases (IRDs), depending on the methods used, disease type, and population tested. In a cohort of 320 families with autosomal dominant retinitis pigmentosa (adRP), we have detected the mutation in 82% of cases using a...
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