[2LBA-101] Patient genome analysis based on de novo assembly builds up new insights for finding structural variation

〇Kazuhiro R. Nitta^1,2, Michihira Tagami², Suneel Indupuru³, Yoshihito Kishita¹, Yukiko Yatsuka¹, Borna Nurun¹, Jonathan D. Coker³, Kei Murayama⁴, Akira Ohtake⁵, Ken Yagi², Yasushi Okazaki^1,2 (1.Diagnostics and Therapeutics of Intractable Diseases / Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2.Division of Genomic Medicine, Center for Integrative Medical Sciences (IMS), RIKEN, 3.OmniTier, Inc., 4.Department of Metabolism, Chiba Children's Hospital, 5.Division of Pediatrics, Saitama Medical University)

Genome analysis, Mitochondrial disease, de novo assembly