Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequencer using the adaptive sampling option, in which software-bas...

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Detalles Bibliográficos
Autores principales: Miyatake, Satoko, Koshimizu, Eriko, Fujita, Atsushi, Doi, Hiroshi, Okubo, Masaki, Wada, Taishi, Hamanaka, Kohei, Ueda, Naohisa, Kishida, Hitaru, Minase, Gaku, Matsuno, Atsuhiro, Kodaira, Minori, Ogata, Katsuhisa, Kato, Rumiko, Sugiyama, Atsuhiko, Sasaki, Ayako, Miyama, Takabumi, Satoh, Mai, Uchiyama, Yuri, Tsuchida, Naomi, Hamanoue, Haruka, Misawa, Kazuharu, Hayasaka, Kiyoshi, Sekijima, Yoshiki, Adachi, Hiroaki, Yoshida, Kunihiro, Tanaka, Fumiaki, Mizuguchi, Takeshi, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606279/
https://www.ncbi.nlm.nih.gov/pubmed/36289212
http://dx.doi.org/10.1038/s41525-022-00331-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606279/
https://www.ncbi.nlm.nih.gov/pubmed/36289212
http://dx.doi.org/10.1038/s41525-022-00331-y

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