Presentation Information
[P1-05-01]Platform-specific characteristics in the analysis of pathogenic RFC1 repeat motifs using long read sequencing
Shunsuke Ogata1,2, Satoko Miyatake1,3, Kohei Hamanaka1, Kazuki Yamada1,4, Naomi Tsuchida1,5, Yuri Uchiyama1,5, Masamune Sakamoto1, Eriko Koshimizu1, Takeshi Mizuguchi1, Hiroshi Doi2, Fumiaki Tanaka2, Naomichi Matsumoto1,3,5 (1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2. Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 4. Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 5. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan)
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