View in EDS HTML Full Text PDF Full Text

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Saved in:
Bibliographic Details
Title: Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41888121
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Fu+L%22">Fu L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+CA%22">Kim CA</searchLink>; Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Tokita+M%22">Tokita M</searchLink>; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Miyata+Y%22">Miyata Y</searchLink>; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Okamoto+N%22">Okamoto N</searchLink>; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Makita+Y%22">Makita Y</searchLink>; Department of Genetic Counseling, Asahikawa Medical University Hospital, Asahikawa, Japan.<br /><searchLink fieldCode="AU" term="%22Osaka+H%22">Osaka H</searchLink>; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.<br /><searchLink fieldCode="AU" term="%22Fujimoto+A%22">Fujimoto A</searchLink>; Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.<br /><searchLink fieldCode="AU" term="%22Daida+A%22">Daida A</searchLink>; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Nirei+J%22">Nirei J</searchLink>; Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Udagawa+N%22">Udagawa N</searchLink>; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.<br /><searchLink fieldCode="AU" term="%22Hayakawa+S%22">Hayakawa S</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Deguchi+K%22">Deguchi K</searchLink>; Deguchi Pediatric Clinic, Omura, Japan.<br /><searchLink fieldCode="AU" term="%22Fukuda+M%22">Fukuda M</searchLink>; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumoto+H%22">Matsumoto H</searchLink>; Department of Pediatrics, Saitama Medical University Hospital, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Akasaka+M%22">Akasaka M</searchLink>; Department of Pediatrics, Iwate Medical University School of Medicine, Yahaba, Japan.<br /><searchLink fieldCode="AU" term="%22Okada+J%22">Okada J</searchLink>; Division of Neonatology, St. Mary's Hospital, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Misumi+Y%22">Misumi Y</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Kido+J%22">Kido J</searchLink>; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.<br /><searchLink fieldCode="AU" term="%22Suzuki+T%22">Suzuki T</searchLink>; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.; Department of Obstetrics and Gynecology, Keiai Hospital, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Aoi+H%22">Aoi H</searchLink>; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Seyama+R%22">Seyama R</searchLink>; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Hamanoue+H%22">Hamanoue H</searchLink>; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Mitsuhashi+S%22">Mitsuhashi S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Ohori+S%22">Ohori S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Saida+K%22">Saida K</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Inoue+Y%22">Inoue Y</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Hamanaka+K%22">Hamanaka K</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Tsuchida+N%22">Tsuchida N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Uchiyama+Y%22">Uchiyama Y</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Koshimizu+E%22">Koshimizu E</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyatake+S%22">Miyatake S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Mizuguchi+T%22">Mizuguchi T</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Itakura+A%22">Itakura A</searchLink>; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Harada+N%22">Harada N</searchLink>; Department of Fundamental Cell Technology, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Fujita+A%22">Fujita A</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2026 Mar 26; Vol. 11 (1). <i>Date of Electronic Publication: </i>2026 Mar 26.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41888121
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-026-00561-4
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Fu L
      – PersonEntity:
          Name:
            NameFull: Kim CA
      – PersonEntity:
          Name:
            NameFull: Tokita M
      – PersonEntity:
          Name:
            NameFull: Miyata Y
      – PersonEntity:
          Name:
            NameFull: Okamoto N
      – PersonEntity:
          Name:
            NameFull: Makita Y
      – PersonEntity:
          Name:
            NameFull: Osaka H
      – PersonEntity:
          Name:
            NameFull: Fujimoto A
      – PersonEntity:
          Name:
            NameFull: Daida A
      – PersonEntity:
          Name:
            NameFull: Nirei J
      – PersonEntity:
          Name:
            NameFull: Udagawa N
      – PersonEntity:
          Name:
            NameFull: Hayakawa S
      – PersonEntity:
          Name:
            NameFull: Deguchi K
      – PersonEntity:
          Name:
            NameFull: Fukuda M
      – PersonEntity:
          Name:
            NameFull: Matsumoto H
      – PersonEntity:
          Name:
            NameFull: Akasaka M
      – PersonEntity:
          Name:
            NameFull: Okada J
      – PersonEntity:
          Name:
            NameFull: Misumi Y
      – PersonEntity:
          Name:
            NameFull: Kido J
      – PersonEntity:
          Name:
            NameFull: Suzuki T
      – PersonEntity:
          Name:
            NameFull: Aoi H
      – PersonEntity:
          Name:
            NameFull: Seyama R
      – PersonEntity:
          Name:
            NameFull: Hamanoue H
      – PersonEntity:
          Name:
            NameFull: Mitsuhashi S
      – PersonEntity:
          Name:
            NameFull: Ohori S
      – PersonEntity:
          Name:
            NameFull: Saida K
      – PersonEntity:
          Name:
            NameFull: Inoue Y
      – PersonEntity:
          Name:
            NameFull: Hamanaka K
      – PersonEntity:
          Name:
            NameFull: Tsuchida N
      – PersonEntity:
          Name:
            NameFull: Uchiyama Y
      – PersonEntity:
          Name:
            NameFull: Koshimizu E
      – PersonEntity:
          Name:
            NameFull: Miyatake S
      – PersonEntity:
          Name:
            NameFull: Mizuguchi T
      – PersonEntity:
          Name:
            NameFull: Itakura A
      – PersonEntity:
          Name:
            NameFull: Harada N
      – PersonEntity:
          Name:
            NameFull: Fujita A
      – PersonEntity:
          Name:
            NameFull: Matsumoto N
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 26
              M: 03
              Text: 2026 Mar 26
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1