Article
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Journal of medical genetics - 1 Feb 2018
Ellingford Jamie M, Horn Bradley, Campbell Christopher, Arno Gavin, Barton Stephanie, Tate Catriona, Bhaskar Sanjeev, Sergouniotis Panagiotis I, Taylor Rachel L, Carss Keren J, Raymond Lucy F L, Michaelides Michel, Ramsden Simon C, Webster Andrew R, Black Graeme C M
Abstract excerpt
BACKGROUND: Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often failed to capture the complete spectrum of genomic variation causing IRD, including CNVs. This study assessed the applicability of introducing CNV surveillance into...
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