Session Details

[O9]Oral Session 9 Clinical Genetics

Fri. Oct 11, 2024 1:20 PM - 2:10 PM JST
Fri. Oct 11, 2024 4:20 AM - 5:10 AM UTC
Room 6(Castle, 1F)
Chairs:Ohsuke Migita(St. Marianna University, School of Medicine), Kaori Adachi(Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University)

[O9-1]Cross-Disorder Analysis of Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder

Itaru Kushima1,2, Masahiro Nakatochi3, Branko Aleksic1, Takashi Okada1, Hiroki Kimura1, Hidekazu Kato1, Mako Morikawa1, Toshiya Inada1, Kanako Ishizuka8, Youta Torii1, Yukako Nakamura1, Satoshi Tanaka9,10, Imaeda Miho6, Nagahide Takahashi4, Maeri Yamamoto1, Yuko Arioka1,7, Daisuke Mori1,5, Masashi Ikeda1,11, Norio Ozaki1 (1.Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2.Medical Genomics Center, Nagoya University Hospital, 3.Public Health Informatics Unit, Nagoya University Graduate School of Medicine, Nagoya, Japan, 4.Department of Integrated Health Sciences, Department of Child and Adolescent Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan, 5.Brain and Mind Research Center, Nagoya University Graduate School of Medicine, Nagoya, Japan, 6.Department of Clinical Oncology and Chemotherapy, Nagoya University Hospital, Nagoya, Japan, 7.Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan, 8.Health Support Center, Nagoya Institute of Technology, Nagoya, Japan, 9.National Hospital Organization Higashi Owari National Hospital, National Hospital Organization Nagoya Medical Center, Nagoya, Japan, 10.Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan, 11.Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan)

[O9-2]Whole-exome sequencing identified novel pathogenic variants in APOB, confirming compound heterozygous FHBL1

Satoru Takase1,2, Hiroyuki Ishiura3, Yuugo Takaki4, Madoka Sawatari4, Nagisa Komatsu4, Masaki Tanaka1, Mikio Takanashi1, Youko Iizuka1, Sachiko Okazaki1, Hiroaki Okazaki1 (1.Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Tokyo, Japan, 2.The Institute of Medical Science, Asahi Life Foundation, Tokyo, Japan, 3.Department of Neurology, The University Of Tokyo Hospital, Tokyo, Japan, 4.Department of Pediatrics, Kumamoto Red Cross Hospital, Kumamoto, Japan)

[O9-3]Whole genome sequencing revealed complex genetic etiologies in a patient with multiple malformation and hypopigmentation

Yuka Murofushi1, Yosuke Nishio1,2,3, Hidefumi Tonoki4, Naoko Asahina5, Tomoo Ogi2, Shinji Saitoh1 (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 4.Medical Genetics Center, Tenshi Hospital, Sapporo, Japan, 5.Department of Pediatrics, Tenshi Chirdren's Medical Center, Tenshi Hospital, Sapporo, Japan)

[O9-4]Extended Whole Exome Sequence: Detection of repeat expansion and mitochondrial gene variants

Daisuke Nakato1, Daisuke Watanabe1, Mamiko Yamada1, Hisato Suzuki1, Toshiki Takenouchi2, Noboru Inagaki3, Fuyuki Miya1, Kenjiro Kosaki1 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 3.Saint Women's Clinic)

[O9-5]Varporter software contributes to the evaluation of cancer gene panel tests by automating the manual curation

Masashi Idogawa1, Shoichiro Tange1, Shoko Goto1, Akihiro Sakurai2, Takashi Tokino1 (1.Department of Medical Genome Sciences, Cancer Research Institute, Sapporo Medical University, 2.Department of Medical Genetics and Genomics, Sapporo Medical University)