Nanopore Sequencing

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
Vahid Akbari, Sarah Dada, Yaoqing Shen, Katherine Dixon, Duha Hejla, Andrew Galbraith, Sanaa Choufani, Rosanna Weksberg, Cornelius F Boerkoel, Laura Stewart, William T Gibson, Steven J M Jones

Journal of Medical Genetics Jan 2025, 62 (1) 32-36; DOI: 10.1136/jmg-2024-110115
Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing
Yanan Wang, Zhenhua Zhao, Fei Meng, Xiangdong Kong

Journal of Medical Genetics Dec 2024, 61 (12) 1096-1102; DOI: 10.1136/jmg-2023-109832
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
Mathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie-Charlotte Villy, Antoine Decees, Eléonore Frouin, Elodie Girard, Sandrine M Caputo, Victor Renault, Véronique Becette, Lisa Golmard, Nicolas Servant, Dominique Stoppa-Lyonnet, Olivier Delattre, Chrystelle Colas, Julien Masliah-Planchon

Journal of Medical Genetics Dec 2023, 60 (12) 1206-1209; DOI: 10.1136/jmg-2023-109155
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf

Journal of Medical Genetics Aug 2023, 60 (8) 747-759; DOI: 10.1136/jmg-2022-108931
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant
Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan

Journal of Medical Genetics Nov 2022, 59 (11) 1082-1086; DOI: 10.1136/jmedgenet-2021-108314
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
Danny E. Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M. Martin, Evan E. Eichler, Fuki M. Hisama, Junko Oshima

Journal of Medical Genetics Nov 2022, 59 (11) 1087-1094; DOI: 10.1136/jmedgenet-2022-108485

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Nanopore Sequencing