Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

摘要

Background Diagnostic use of gene panel nextgeneration 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 first-tier diagnostic gene panel NGS services for IRD.