RT Journal Article SR Electronic T1 Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP jmedgenet-2017-104791 DO 10.1136/jmedgenet-2017-104791 A1 Jamie M Ellingford A1 Bradley Horn A1 Christopher Campbell A1 Gavin Arno A1 Stephanie Barton A1 Catriona Tate A1 Sanjeev Bhaskar A1 Panagiotis I Sergouniotis A1 Rachel L Taylor A1 Keren J Carss A1 Lucy F L Raymond A1 Michel Michaelides A1 Simon C Ramsden A1 Andrew R Webster A1 Graeme C M Black YR 2017 UL http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104791.abstract AB 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 first-tier diagnostic gene panel NGS services for IRD.Methods Three read-depth algorithms were applied to gene panel NGS data sets for 550 referred individuals, and informatics strategies used for quality assurance and CNV filtering. CNV events were confirmed and reported to referring clinicians through an accredited diagnostic laboratory.Results We confirmed the presence of 33 deletions and 11 duplications, determining these findings to contribute to the confirmed or provisional molecular diagnosis of IRD for 25 individuals. We show that at least 7% of individuals referred for diagnostic testing for IRD have a CNV within genes relevant to their clinical diagnosis, and determined a positive predictive value of 79% for the employed CNV filtering techniques.Conclusion Incorporation of CNV analysis increases diagnostic yield of gene panel NGS diagnostic tests for IRD, increases clarity in diagnostic reporting and expands the spectrum of known disease-causing mutations.