Session Details
[P1-04]Poster Session 1-04 Bioinformatics, Statistical Genetics
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room
[P1-04-1]Identification of splicing variants using cross-tissue transcriptome
○Yuki Yano1, Ai Okada1, Kenichi Chiba1, Wataru Nakamura1, Raul Nicolas Mateos1, Yoshitaka Sakamoto1, Masahiro Sugawa1, Tojo Nakayama2, Takanori Yokota2, Yuichi Shiraishi1 (1.Division of Genome Analysis Platform Development, National Cancer Center, Tokyo, Japan, 2.Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan)
[P1-04-2]Developing a Phenotype-Driven System with Virtual Gene Panels to Improve Diagnostic Efficiency for Rare Genetic Diseases
○Jaemoon Shin1, Atsuko Yamaguchi2, Hirotomo Saitsu3, Toyofumi Fujiwara1 (1.Database Center for Life Science, Research Organization of Information and Systems, Kashiwa, Japan, 2.Tokyo City University, Tokyo, Japan, 3.Hamamatsu University School of Medicine, Hamamatsu, Japan)
[P1-04-3]Exploring novel epilepsy-causing genes using network propagation approach
○Taiki Hara1, Takeshi Mizuguchi1, Li Fu1, Masamune Sakamoto1, Yuri Uchiyama1,2, Naomi Tsuchida1,2, Eriko Koshimizu1, Atsushi Fujita1, Kazuharu Misawa1, Satoko Miyatake1,3, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 3.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)
[P1-04-4]Simulation of GWAS Power Imbalance and Bias Correction Method Development
○Takashi Kido1, Naoyuki Kamatani2 (1.Teikyo University Advanced Comprehensive Research Organization, 2.StaGen Ci., Ltd.)
[P1-04-5]Elucidation of intrinsic features in DNA sequences through long-read sequencing technology
○Hidehito Inagaki, Katsuyuki Yokoi, Rie Kawamura, Yui Shichiri, Hiroki Kurahashi (Division of Molecular Genetics, CMS, Fujita Health University, Toyoake, Japan)
[P1-04-6]Improvement of the workflow for family trio-based rare disease analysis
○Hiroyuki Mishima, Koh-ichiro Yoshiura (Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Japan)
[P1-04-7]Superiority of Precision-Recall Curve over Receiver Operating Characteristic Curve in the imbalanced Missense data
○Tatsuru Ikeda (Department of Cancer Genomics, Hakodate Goryoukaku Hospital, Hakodate, Japan)
[P1-04-8]Developing a robust workflow for polygenic score calculation in precision medicine
○Yoichi Sutoh1,2, Tsuyoshi Hachiya1,2, Yayoi Otsuka-Yamasaki1,2, Tomoharu Tokutomi3,4, Akiko Yoshida3,4, Yuka Kotozaki5,6, Shohei Komaki1,2, Shiori Minabe1,2, Hideki Ohmomo1,2, Kozo Tanno5,6, Akimune Fukushima3,4, Makoto Sasaki7,8, Shimizu Atsushi1,2 (1.Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, 2.Division of Biomedical Information Analysis, Institute for Biomedical Sciences, Iwate Medical University, 3.Division of Innovation & Education, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, 4.Department of Clinical Genetics, School of Medicine, Iwate Medical University, 5.Division of Clinical Research & Epidemiology, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, 6.Department of Hygiene and Preventive Medicine, School of Medicine, Iwate Medical University, 7.Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, 8.Division of Ultrahigh Field MRI, Institute for Biomedical Sciences, Iwate Medical University)
[P1-04-9]Leveraging Long-Read Sequencing for High-Quality Genome Assembly: Comparative Analysis of Assembly Tools
○Saeideh Ashouri1, Yosuke Kawai1, Ran Wei1, Yutaka Suzuki2, Masao Nagasaki3, Toshiaki Katayama4, Katsushi Tokunaga1 (1.Genome Medical Science Project, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan, 2.Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan, 3.Division of Biomedical Information Analysis, Medical Research Center for High Depth Omics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan, 4.Database Center for Life Science, Biodata Science Initiative, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan)