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

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 genomi...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Copy-Number Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5800348/
https://ncbi.nlm.nih.gov/pubmed/29074561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104791
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