The 70th Annual Meeting of the Japan Society of Human Genetics
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Session Details

Oral Session

[O16]Oral Session 16　Bioinformatics / Statistical Genetics

Fri. Dec 19, 2025 10:40 AM - 11:30 AM JST
Fri. Dec 19, 2025 1:40 AM - 2:30 AM UTC
Room 7 (411+412, 4F, PACIFICO Yokohama)
Chairs：Jun Ohashi（Graduate School of Science, The University of Tokyo）／Kazumasa Saigoh（Kindai University Hospital）

[O16-1]Evaluation of Platform-Specific Bias in CNV Detection Using HI-CNV on SNP Arrays in a Japanese Population

Yasuyuki Yamamoto1, Yuki Ohashi1, Keitaro Matsuo2, Masahiro Nakatochi1, Japan Multi-Institutional Collaborative Cohort Study1,2 (1.Public Health Informatics Unit, Department of Integrated Health Sciences, Graduate School of Medicine, Nagoya University, 2.Division of Cancer Epidemiology and Prevention, Aich Cancer Center)

[O16-2]Development of Normalization Methods for Accurate Detection of Copy Number Alterations from 3D Genome Mapping Data

Kazuya Sakaguchi, Kugui Tanaka, Satoshi Yuhara (Department of Research Testing Development, H.U. Group Research Institute)

[O16-3]Skin condition improvement factors identified by decision tree analysis of skin-related SNPs and lifestyle habits

Tatsuya Yoshikawa1, Miho Miyanaga1, Yukie Miyaki2, Masako Katsuyama1, Kumiko Kikuchi1, Satoshi Amano1 (1.Shiseido Co. Ltd., MIRAI Technology Institute, 2.Shiseido Co. Ltd., Brand Value R&D Institute)

[O16-4]ROWVA: a novel structure-based metric using AlphaFold2 to assess the pathogenicity of protein variants

Masahiro Nakatochi1, Taiki Furutani1, Yuka Okusha2, Hiroki Nagami2, Hiroko Hanahusa2, Shuta Tomida3, Ryusuke Sawada2, Yasuyuki Hosono2 (1.Nagoya University Graduate School of Medicine, Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya, Japan, 2.Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences, Department of Pharmacology, Okayama, Japan, 3.Okayama University Hospital, Center for Comprehensive Genomic Medicine, Okayama, Japan)

[O16-5]The future direction of human genetics in the AI era

Naoyuki Kamatani1,2 (1.StaGen Co. Ltd., Tokyo, Japan, 2.Department of Neurology, Fujita Health University)
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