Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies

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Authors: Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes

Journal title: Molecular Genetics & Genomic Medicine

Journal number: e2164

Journal publisher: John Wiley & Sons

Published year: 2023

DOI identifier: 10.1002/mgg3.2164

ISSN: 2324-9269