The 71st Annual Meeting of the Japan Society of Human Genetics
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Session Details

Poster Session

[P1-11]Bioinformatics/Statistical Genetics

Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Exhibition Hall 1-A+2 (11) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)

[P1-11-01]Ensemble Machine Learning Identifies Radiosensitivity Associated Missense Variants in Cervical Cancer

Rei Gou1, Tomohiko Fukuda2, Hikaru Tagaya2, Osamu Yoshino2 (1. Department of Obstetrics and Gynecology, Japanese Red Cross Yamanashi Hospital, Fujikawaguchiko, Japan, 2. Department of Obstetrics and Gynecology, University of Yamanashi Hospital)

[P1-11-02]Computational Comparison of Differential Splicing tools for Targeted RNA Long-Amplicon Sequencing (rLAS)

Hiroki Ura1,2, Yo Niida1,2 (1. Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 2. Center for Clinical Genomics, Kanazawa Medical University Hospital)

[P1-11-03]AI-based evaluation of phenotypic mutations in recessive metabolic disorders

Kazuro Shimokawa1,3, Yoko Kuroki1,2, Hiroshi Tanaka3, Yuko Oho1,4 (1. Division of Collaborative Research, National Center for Child Health and Development, 2. Division of Pediatric Disease Genetics, Department of Genome Medicine, National Center for Child Health and Development, 3. DAERA co.LTD, 4. Department of Nutrition and Dietetics Faculty of Food Sciences and Nutrition Jissen Women's University)

[P1-11-04]Identification of Structural Variations Associated with Isoform-Specific Expression in the Human Transcriptome

Tajung Lee, Yuna Iso, Ko Ikemoto, Akihiro Fujimoto (Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo)

[P1-11-05]Structural Biases in GWAS Risk Allele Detection

Takashi Kido (Teikyo University Center for General Education)

[P1-11-06]Towards testing for associations between genome-wide active LINE-1 transposon burden and human phenotypes

Mio Shibata1, Ryota Sugimoto2, Vamshikrishna R. Pothireddy3, Adam B. Burkholder4, Farida S. Akhtari5, Alison A. Motsinger-Reif5, Michael B. Fessler3, Nicholas F. Parrish1 (1. Department of Surgery, Duke University, Durham, NC, USA, 2. Department of Biotechnology, Bioinformatics Laboratory, Toyama Prefectural University, Toyama, Japan, 3. Clinical Research Branch, National Institute of Environmental Health Science, Durham, NC, USA, 4. Environmental Science Cyberinfrastructure, National Institute of Environmental Health Sciences, Durham, NC, USA, 5. Biostatistics & Computational Biology Branch, National Institute of Environmental Health Sciences, Durham, NC, USA)

[P1-11-07]Withdrawn

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