Session Details

[OE1]Oral English Session 1 Clinical Genetics

Thu. Oct 10, 2024 9:30 AM - 10:20 AM JST
Thu. Oct 10, 2024 12:30 AM - 1:20 AM UTC
Room 5(Highness Hall, 2F)
Chairs:Hirotomo Saitsu(Department of Biochemistry, Hamamatsu University School of Medicine), Nobuhiko Okamoto(Osaka Women's and Children's Hospital)

[OE1-1]Non-coding repeat expansions in Parkinson's disease and related disorders

Makito Hirano1, Makoto Samukawa1, Satoko Miyatake2,3, Yuko Yamagishi1, Chiharu Isono4, Kazumasa Saigoh1, Eriko Koshimizu2, Takeshi Mizuguchi2, Naomichi Matsumoto2, Yoshitaka Nagai1 (1.Department of Neurology, Kindai University Faculty of Medicine, Osaka, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3.Department of Clinical Genetics, Yokohama City University Hospital, 4.Division of Rehabilitation Medicine, Kindai University Hospital)

[OE1-2]Survey on Institutional Readiness for Handling VUS in Genetic Testing for Hereditary Cancer

Hiroyuki Otake, Tamae Ohye (Division of Genetic Counseling, Department of Clinical Laboratory Medicine, Graduate Schoor of Health Science, Fujita Health University, Toyoake, Japan)

[OE1-3]Exploring Genome-wide DNA Methylation Patterns in Patients with DNMT1 Variants through Nanopore Sequencing

Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Akihiro Hashiguchi, Hiroshi Takashima (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences)

[OE1-4]Differential effects of HLA-B*15:11 and HLA-A*31:01 on carbamazepine-induced cutaneous adverse reactions

Koya Fukunaga1,2, Eri Tsukagoshi2, Maiko Kurata3, Yoshiko Mizukawa3, Hiroyuki Niihara4, Eishin Morita4, Yuko Watanabe5, Yukie Yamaguchi5, Hideaki Watanabe6, Saeko Nakajima7, Takashi Nomura7, Kenji Kabashima7, Tohyama Mikiko8, Hiroaki Azukizawa9, Hideo Asada9, Akito Hasegawa10, Natsumi Hama10, Takeshi Ozeki1, Yoichi Mashimo11, Akihiro Sekine11, Kayoko Matsunaga12, Yoichi Tanaka2, Ryosuke Nakamura2,13, Riichiro Abe10, Taisei Mushiroda1, Yoshiro Saito14 (1.Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 2.Division of Medicinal Safety Science, National Institute of Health Sciences, Kawasaki, Japan, 3.Department of Dermatology, Kyorin University School of Medicine, Tokyo, Japan, 4.Department of Dermatology, Faculty of Medicine, Shimane University, Shimane, Japan, 5.Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 6.Department of Dermatology, Showa University Northern Yokohama Hospital, Yokohama, Japan, 7.Department of Dermatology, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan, 8.Department of Dermatology, National Hospital Organization Shikoku Cancer Center, Japan, 9.Department of Dermatology, School of Medicine, Nara Medical University, Kashihara, Japan, 10.Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan, 11.Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan, 12.Fujita Health University School of Medicine, Aichi, Japan, 13.Laboratory of Pharmaceutical Bioscience, Faculty of Pharmaceutical Sciences, Teikyo University, Tokyo, Japan, 14.National Institute of Health Sciences, Kawasaki, Japan)

[OE1-5]Consideration about Japanese variants in TP53 based on the ToMMo-54KJPN: enhanced prediction accuracy with AlphaMissense

Tasuku Mariya1,2, Masashi Idogawa3,4, Hiroshi Nakase4, Takashi Tokino2, Tsuyoshi Saito1, Sakurai Akihiro2 (1.Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Hokkaido, Japan, 2.Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Hokkaido, Japan, 3.Department of Medical Genome Sciences, Cancer Research Institute, Sapporo Medical University School of Medicine, Hokkaido, Japan, 4.Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Hokkaido, Japan)