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

Oral Session

[O02]Oral Session 2　Functional Genomics / New Technologies

Thu. Dec 18, 2025 10:10 AM - 11:00 AM JST
Thu. Dec 18, 2025 1:10 AM - 2:00 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs：Tohru Ohta（Advanced Research Promotion Center, Health Sciences University of Hokkaido）／Kazumasa Saigoh（Kindai University Hospital）
［English Session］

[O2-1]Pharmacogenomic Influence of HMGCR rs12916 on LDL-C Lowering by Simvastatin in Thai Patients

Phichet Dapha1, Natchaya Vanwong2, Suvara Wattanapitayakul3, Sarawut Siwamogsatham4,5, Punyabhorn Rattanacheeworn3 (1.Faculty of Medicine, Srinakharinwirot University, Bangkok, Thailand, 2.Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand, 3.Department of Pharmacology, Faculty of Medicine, Srinakharinwirot University, Bangkok, Thailand, 4.Cardiac Center, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand, 5.Maha Chakri Sirindhorn Clinical Research Center (Chula CRC), Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand)

[O2-2]Whole-genome sequencing reveals an East Asian-specific rare variant of INPP5J associated with Alzheimer's disease

Tetsuaki Kimura1, Akiko Yamakawa1, Risa Mitsumori1, Shumpei Niida2, Kouichi Ozaki1,3,4,5, Daichi Shigemizu1,5 (1.Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 2.Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 3.Department of Aging Research, Nagoya University Graduate School of Medicine, Nagoya, Japan, 4.RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 5.Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan)

[O2-3]Mapping dynamic eQTLs in mid-brain organoids using CRISPRi/a to elucidate molecular mechanisms in Parkinson's disease

Yuji Miyatake1, Atsushi Fukuda2, Kazuaki Yokoyama3, Natsuhiko Kumasaka1 (1.Division of Digital Genomics, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan, 2.Tokai University School of Medicine, Kanagawa, Japan, 3.Department of Hematology/Oncology, Research Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan)

[O2-4]Region-specific generation and retention of acetylated cohesin shapes genome-wide pattern of sister chromatid cohesion

Mai I Shimizu1,2,3, Masashige Bando2, Atsunori Yoshimura2, Katsuhiko Shirahige2, Takashi Sutani2 (1.Faculty of Core Research, Natural Sciences Division, Ochanomizu University, Tokyo, Japan, 2.Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, Japan, 3.Institute of Medical Genetics, Tokyo Womenʼs Medical University, Tokyo, Japan)

[O2-5]Comprehensive CYP2D6 genotyping using long-read sequencing and detection of novel haplotypes across global populations

Koya Fukunaga1, Kyohei Miyagi2, Katsunori Nakamura2, Fuyuki Miya3, Kenjiro Kosaki3, Taisei Mushiroda1 (1.Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 2.Department of Pharmacotherapeutics, Graduate School of Medicine, University of the Ryukyus, Japan, 3.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)
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