Presentation Information
[O11-06]A trio-based long-read sequencing workflow identifies a pathogenic Alu element insertion in an undiagnosed patient
Hiroyuki Mishima1,2, Yoriko Watanabe3,4, Uradzislau Korzun1, Koh-ichiro Yoshiura1,2 (1. Department of Human Genetics, Unit of Radiation Effects on Humans, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan, 2. Leading Medical Research Core Unit, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan, 3. Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan, 4. Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan)
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