Session Details
[O05]Oral Session 5 Bioinformatics
Thu. Dec 18, 2025 11:10 AM - 12:00 PM JST
Thu. Dec 18, 2025 2:10 AM - 3:00 AM UTC
Thu. Dec 18, 2025 2:10 AM - 3:00 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs:Jun Ohashi(Graduate School of Science, The University of Tokyo)/Hiroyuki Mishima(Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University)
[English Session]
[O5-1]Transposon Variants as an Underrecognized Cause of Genetic Disease: A MEGAnE-Based Study in an Undiagnosed Cohort
Kenjiro Kosaki1, Shohei Kojima2, Mie Inaba3 (1.Center for Medical Genetics, Keio University, Tokyo, Japan, 2.Human Biology Microbiome Quantum Research Center, Keio University, Tokyo, Japan, 3.Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan)
[O5-2]Rapid Computation of Haplotype Frequencies via Wavelet Trees
Kazuharu Misawa1,2 (1.Graduate School of Data Science, Yokohama City University, Yokohama, Japan, 2.RIKEN Center for Advanced Intelligence Project)
[O5-3]Prediction of chaperone drug amenability for GLA variants in Fabry disease
Yuji Sakahashi1, Yohei Miyashita2,3, Yasuki Ishihara3, Manami Hama2, Osamu Yamaguchi1,4, Yoshihiro Asano2,3 (1.Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Japan, 2.Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan, 3.Biobank, Open Innovation Center, National Cerebral and Cardiovascular Center, Osaka, Japan, 4.Department of Cardiology, Pulmonology, Nephrology, and Hypertension, Ehime University, Ehime, Japan)
[O5-4]Establishment of a high-throughput long-read genome and transcriptome analysis platform for large-scale disease research
Koyo Tsujikawa1,2, Yosuke Nishio1,2, Kotaro Tsukada1, Yasuyoshi Oka1, Hironobu Morinaga1, Kana Kato3, Mayuko Shimada3, Yuka Nakazawa1,4,5, Tomoo Ogi1,5,6,7 (1.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 2.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 3.Genome Maintenance Inc., Nagoya, Japan, 4.Department of Molecular Genetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan, 5.Center for One Medicine Innovative Translational Research (COMIT), Gifu University Institute for Advanced Study, Gifu, Japan, 6.Department of Human Genetics, Graduate School of Medicine, Nagoya University, Nagoya, Japan, 7.Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research (iGCORE), Tokai National Higher Education and Research System, Nagoya, Japan)
