Presentation Information
[OE8-1]Genome sequencing narrows the diagnostic gap of undiagnosed diseases with inconclusive results through exome sequencing
○Yosuke Nishio1,2,3,4, Yuka Murofushi4, Seiji Mizuno5, Hiromi Nyuzuki6, Tomomi Nakamura7, Hidefumi Tonoki8, Mie Inaba5, Takahiro Yonekawa7, Hideki Muramatsu3, Aki Ishikawa9, Taichi Oso1,2, Yuka Nakazawa1,2, Oka Yasuyoshi1,2, Takeshi Ikeuchi6, Akihiro Sakurai9, Tomohiko Ichikawa10, Takahiro Yamada11, Shinji Saitoh4, Yoshiyuki Takahashi3, Tomoo Ogi1,2 (1.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 2.Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 4.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 5.Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan, 6.Center for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan, 7.Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan, 8.Medical Genetics Center, Tenshi Hospital, Sapporo, Japan, 9.Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan, 10.Division of Clinical Genetics, Chiba University Hospital, Chiba, Japan, 11.Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan)