Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.
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| Title: | Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery. |
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| Authors: | Fu L; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan., Kim CA; Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Tokita M; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan., Miyata Y; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Makita Y; Department of Genetic Counseling, Asahikawa Medical University Hospital, Asahikawa, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan., Fujimoto A; Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Daida A; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Nirei J; Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Udagawa N; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan., Hayakawa S; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Deguchi K; Deguchi Pediatric Clinic, Omura, Japan., Fukuda M; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan., Matsumoto H; Department of Pediatrics, Saitama Medical University Hospital, Saitama, Japan., Akasaka M; Department of Pediatrics, Iwate Medical University School of Medicine, Yahaba, Japan., Okada J; Division of Neonatology, St. Mary's Hospital, Fukuoka, Japan., Misumi Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan., Kido J; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan., Suzuki T; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.; Department of Obstetrics and Gynecology, Keiai Hospital, Saitama, Japan., Aoi H; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan., Seyama R; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan., Hamanoue H; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan., Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Inoue Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Itakura A; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan., Harada N; Department of Fundamental Cell Technology, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan. naomat@yokohama-cu.ac.jp.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan. naomat@yokohama-cu.ac.jp. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2026 Mar 26; Vol. 11 (1). Date of Electronic Publication: 2026 Mar 26. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-026-00561-4 |
