[3P-916_3SP-10-13] Identification of novel mitochondrial disease-causing genes through deep intronic variant exploration
○Kouta Nakamura1, Ayumu Sugiura1, Atsuko Okazaki1, Yuichi Shiraishi2, Yoshihito Kishita1,3, Yukiko Yatsuka1, Naoyuki Matsumoto1, Akira Ohtake4,5, Kei Murayama1,6, Yasushi Okazaki1,7
(1.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University Juntendo Univ, 2.Division of Genome Analysis Platform Development, National Cancer Center Research Institute, 3.Department of Life Science, Faculty of Science and Engineering, Kindai University, 4.Department of Pediatrics&Clinical Genomics ,Saitama Medical University, 5.Center for Intractable Diseases, Saitama Medical University Hospital, 6.Department of Metabolism, Chiba Children’s Hospital, 7.University Laboratory for Comprehensive Genomic Analysis, RIKEN Center for integrative Medical Sciences)