Session Details
[OE2]Oral English Session 2 Next Generation Sequencing / New Technologies
Thu. Dec 15, 2022 10:20 AM - 11:10 AM JST
Thu. Dec 15, 2022 1:20 AM - 2:10 AM UTC
Thu. Dec 15, 2022 1:20 AM - 2:10 AM UTC
Room 7
Chairs：Naomichi Matsumoto (Department of Human Genetics, Yokohama City University Graduate School of Medicine), Koh-ichiro Yoshiura (Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University)
[OE2-1]Whole-genome long-read sequencing for breakpoint analysis of de novo balanced reciprocal translocations
○Mamiko Yamada1, Hisato Suzuki1, Hidefumi Tonoki2, Kiyotaka Kosugiyama3, Takeshi Ujiie4, Fuyuki Miya1, Toshiki Takenouchi5, Kenjiro Kosaki1 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Medical Genetics Center, Tenshi Hospital, Sapporo, Japan, 3.Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan, 4.Ujiie Memorial Clinic for Children, Sapporo, Japan, 5.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)
[OE2-2]Genome, transcriptome, and epigenetic analysis of a tetrasomy 21 patient using long-read sequencing technology
○Kugui Yoshida1, Ko Ikemoto1, Takako Takano2,3, Akihiro Fujimoto1 (1.Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2.Department of Child Health, Tokyo Kasei University, 3.Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan)
[OE2-3]Direct detection of loss of heterozygosity using the genome sequencing data of three-generation human families
○Hyoenjeong Kim, Mikita Suyama (Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan)
[OE2-4]Scalable and accurate detection of technically challenging variants through modified next-generation sequencing
○Aradhya Swaroop, Rojahn Susan, Truty Rebecca, Kennemer Michael, Paul Joshua (Invitae Inc., San Francisco, USA)
[OE2-5]corePGseq: a targeted sequencing panel of 18 pharmacogenes including 4 HLA genes and essential non-coding regions
○Koya Fukunaga, Taisei Mushiroda (Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan)