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

Autor: 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 FL, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme CM

Publikováno v: Ellingford, J, Horn, B, Campbell, C, Arno, G, Barton, S, Tate, C, Bhaskar, S, Sergouniotis, P, Taylor, R L, Carss, K J, Raymond, F L, Michaelides, M, Ramsden, S C, Webster, A R & Black, G 2018, ' Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. ', Journal of Medical Genetics, vol. 55, no. 2, pp. 114-121 . https://doi.org/10.1136/jmedgenet-2017-104791

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

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