Session Details
[O11]Bioinformatics/Statistical Genetics
Fri. Nov 20, 2026 9:40 AM - 10:40 AM JST
Fri. Nov 20, 2026 12:40 AM - 1:40 AM UTC
Fri. Nov 20, 2026 12:40 AM - 1:40 AM UTC
Room 5 (Meeting Room 2, Exhibition Building, Sendai International Center)
Chair: Hiroyuki Mishima (Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University), Fuyuki Miya (Keio University School of Medicine)
[O11-01]Genetic diagnosis of sibling cases guided by outlier expression analysis using urine-derived cell transcriptomics
Toru Takagi1, Sachiko Miyamoto1, Kenji Shimizu2, Yasuhiko Tanaka3, Tomoko Matsubayashi4, Yohei Masunaga1,5, Hirotomo Saitsu1 (1. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2. Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Hospital, Shizuoka, Japan, 3. Devision of Pediatric Cardiology, Shizuoka Children's Hospital, Shizuoka, Japan, 4. Department of Pediatric Neurology, Shizuoka Children's Hospital, Shizuoka, Japan, 5. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan)
[O11-02]Genome clustering using GDD-ENS enables reinterpretation of diagnoses and inference of cancer of unknown primary
Hikaru Nakahara1, Hiroaki Niitsu1, Akiko Abe1,2, Misako Ishihara1,2, Mizuki Takenonaka1, Nelson Hayes3, Koji Arihiro4, Takao Hinoi1 (1. Department of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima, Japan, 2. Department of Nursing, Hiroshima University Hospital, Hiroshima, Japan, 3. Department of Gastroenterology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan, 4. Department of Anatomical Pathology, Hiroshima University Hospital, Hiroshima, Japan)
[O11-03]CLAVI: an LLM-agent framework for contextual interpretation of variants of uncertain significance
Yuki Yano1,2, Ai Okada1, Yoshitaka Sakamoto1, Yuichi Shiraishi1 (1. Division of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan, 2. Department of Neurology and Neurological Science, Institute of Science Tokyo)
[O11-04]Development and Evaluation of ZebraSeek, an Integrated Generative AI Based Diagnostic Support Tool for Rare Diseases
Naoya Yoshikuwa1,3, Teppei Okazaki2, Jae-mun Shin3, Orion Buske4, Eisuke Dohi5, Hiroyuki Mishima6, Atsuko Yamaguchi2, Tzung-Chien Hsieh7, Hirokazu Chiba3, Toyofumi Fujiwara3, Susumu Goto1,3 (1. Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan, 2. Department of Information and Data Science Graduate School of Information and Data Science Tokyo City University, Tokyo, Japan, 3. Database Center for Life Science (DBCLS), BioData Science Initiative, National Institute of Genetics, 4. PhenoTips, Toronto, ON, Canada, 5. National Institute of Neuroscience, National Center of Neurology and Psychiatry, 6. Atomic Bomb Disease Institute, Nagasaki University, 7. Institute for Genomic statistics and Bioinformatics - University Hospital Bonn, Germany)
[O11-05]Long-read RNA sequencing reveals gene- and transcript-level expression changes in Alzheimer's disease
Yuki Iwasaki1, Akiko Yamakawa1, Tetsuaki Kimura1, Takumi Nishiki1, Shumpei Niida2, Kouichi Ozaki1,3,4,5, Daichi Shigemizu1,4 (1. Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan, 2. Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan, 3. RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 4. Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan, 5. Department of Aging Research, Nagoya University Graduate School of Medicine, Nagoya, Japan)
[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)
