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

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

Abstract 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 sof...

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Bibliographic Details
Main Authors: Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, Masaki Okubo, Taishi Wada, Kohei Hamanaka, Naohisa Ueda, Hitaru Kishida, Gaku Minase, Atsuhiro Matsuno, Minori Kodaira, Katsuhisa Ogata, Rumiko Kato, Atsuhiko Sugiyama, Ayako Sasaki, Takabumi Miyama, Mai Satoh, Yuri Uchiyama, Naomi Tsuchida, Haruka Hamanoue, Kazuharu Misawa, Kiyoshi Hayasaka, Yoshiki Sekijima, Hiroaki Adachi, Kunihiro Yoshida, Fumiaki Tanaka, Takeshi Mizuguchi, Naomichi Matsumoto
Format: Article
Language:English
Published: Nature Portfolio 2022-10-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00331-y

Internet

https://doi.org/10.1038/s41525-022-00331-y

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