Correction: Increasing The Yield In Targeted Next-Generation Sequencing By Implicating Cnv Analysis, Non-Coding Exons And The Overall Variant Load: The Example Of Retinal Dystrophies

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations (CNVs… CONTINUE READING

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