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

by 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
Published 2023-06-01

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

by Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes
Published 2023-01-01