Article
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Ophthalmic genetics - 1 Aug 2020
Shah Mital, Shanks Morag, Packham Emily, Williams Jonathan, Haysmoore Jesse, MacLaren Robert E, Németh Andrea H, Clouston Penny, Downes Susan M
Abstract excerpt
INTRODUCTION: Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negative. We present the molecular findings of the Oxford phenotype-based NGS panels for genetic...
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