Session Details

[BO]Oral Presentation Award Session

Fri. Dec 16, 2022 11:00 AM - 11:50 AM JST
Fri. Dec 16, 2022 2:00 AM - 2:50 AM UTC
Room 1
Chairs:Kenjiro Kosaki (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan), Haruhiko Sago (Center for Maternal-Fetal, Neonatal and Reproductive Medicine, Center for Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan)

[BO-1]Targeted local assembly using Nanopore long reads enables in-depth sequence analysis of repetitive regions

Ko Ikemoto, Akihiro Fujimoto (Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan)

[BO-2]A common deletion at BAK1 attenuates enhancer activity and confers risk of intracranial germ cell tumors

Kyuto Sonehara1, Yui Kimura2,3, Yoshiko Nakano3,4, Tatsuya Ozawa3, Meiko Takahashi5, Ken Suzuki1, Takashi Fujii6,7,8, Yuko Matsushita7,8, Arata Tomiyama6,7,8, Toshihiro Kishikawa1,9, Kenichi Yamamoto1, Tatsuhiko Naito1,10, Tomonari Suzuki11, Shigeru Yamaguchi12, Tomoru Miwa13, Hikaru Sasaki13, Masashi Kitagawa14, Naoyuki Ohe15, Junya Fukai16, Hideki Ogiwara2, Atsufumi Kawamura17, Satoru Miyawaki18, Fumihiko Matsuda5, Nobutaka Kiyokawa2, Koichi Ichimura3,8, Ryo Nishikawa11, Yukinori Okada1,10,19,20, Keita Terashima2 (1.Osaka University Graduate School of Medicine, Suita, Japan, 2.National Center for Child Health and Development, Tokyo, Japan, 3.National Cancer Center Research Institute, Tokyo, Japan, 4.The University of Tokyo Hospital, Tokyo, Japan, 5.Kyoto University Graduate School of Medicine, Kyoto, Japan, 6.National Defense Medical College, Tokorozawa, Japan, 7.Juntendo University School of Medicine, Tokyo, Japan, 8.Graduate School of Medicine, Juntendo University, Tokyo, Japan, 9.Aichi Cancer Center Hospital, Nagoya, Japan, 10.Graduate School of Medicine, the University of Tokyo, Tokyo, Japan, 11.Saitama Medical University International Medical Center, Hidaka, Japan, 12.Faculty of Medicine, Hokkaido University, Sapporo, Japan, 13.Keio University School of Medicine, Tokyo, Japan, 14.Shizuoka Children's Hospital, Shizuoka, Japan, 15.Graduate School of Medicine, Gifu University, Gifu, Japan, 16.Wakayama Medical University School of Medicine, Kimiidera, Japan, 17.Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan, 18.Faculty of Medicine, the University of Tokyo, Tokyo, Japan, 19.Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan, 20.RIKEN Center for Integrative Medical Sciences, Yokohama, Japan)

[BO-3]Elucidation of genetic characteristics related to onset age of atopic dermatitis

Keiko Hikino1, Nao Tanaka1,2, Masaru Koido1,3, Kohei Tomizuka1, Yoshinao Koike1, Shuji Ito1,4, Akari Suzuki1, Yukihide Momozawa1, Yoichiro Kamatani1,3, Biobank Japan3, Taisei Mushiroda1, Chikashi Terao1,5,6 (1.RIKEN, Yokohama, JAPAN, 2.Tokyo Medical and Dental University, Tokyo, Japan, 3.The University of Tokyo, Tokyo, Japan, 4.Shimane University Faculty of Medicine, Izumo, Japan, 5.Shizuoka General Hospital, Shizuoka, Japan, 6.University of Shizuoka, Shizuoka, Japan)

[BO-4]Alu-mediated genomic rearrangements revealed by multi-omics analysis

Yoshihito Kishita1,2,4, Kazuhiro R Nitta2, Yukiko Yatsuka2, Atsuko Okazaki2, Ayumu Sugiura2, Takuya Fushimi3, Nanako Omichi4, Akira Ohtake5,6, Kei Murayama3,7, Yasushi Okazaki2,8 (1.epartment of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan, 2.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan, 3.Department of Metabolism, Chiba Children's Hospital, Chiba, Japan, 4.Kindai University, Graduate School of Science and Engineering, Genetic Counselor Training Course, Osaka, Japan, 5.Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan, 6.Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan, 7.Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan, 8.Laboratory for Comprehensive Genomic Analysis, RIKEN Centre for Integrative Medical Sciences, Kanagawa, Japan)

[BO-5]A new evaluating method for undiagnosed fetal structural anomalies by whole exome sequencing, including introns

Taniguchi Kosuke1, Fuyuki Hasegawa2, Saki Aoto3, Hiroko Ogata1, Katsusuke Ozawa2, Seiji Wada2, Haruhiko Sago2, Kenichiro Hata1,4 (1.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan, 2.Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development,Tokyo, Japan, 3.Medical Genome Center, National Center for Child Health and Development, Tokyo, Japan, 4.Department of Molecular and Cellular Biology, Gumma University, Maebashi, Gunma, Japan)