View in EDS HTML Full Text PDF Full Text

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.

Saved in:
Bibliographic Details
Title: DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
Authors: Khazeeva G; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Sablauskas K; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., van der Sanden B; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Kwint M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Hinne M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands., van Gerven M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands., Yntema H; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Vissers L; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.
Source: Nucleic acids research [Nucleic Acids Res] 2022 Sep 23; Vol. 50 (17), pp. e97.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: 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: 35713566
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Khazeeva+G%22">Khazeeva G</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sablauskas+K%22">Sablauskas K</searchLink>; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22van+der+Sanden+B%22">van der Sanden B</searchLink>; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Steyaert+W%22">Steyaert W</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kwint+M%22">Kwint M</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rots+D%22">Rots D</searchLink>; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hinne+M%22">Hinne M</searchLink>; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gerven+M%22">van Gerven M</searchLink>; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Yntema+H%22">Yntema H</searchLink>; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vissers+L%22">Vissers L</searchLink>; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220411011%22">Nucleic acids research</searchLink> [Nucleic Acids Res] 2022 Sep 23; Vol. 50 (17), pp. e97.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0411011 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1362-4962 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203051048%22">03051048 </searchLink><i>NLM ISO Abbreviation: </i>Nucleic Acids Res <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35713566
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/nar/gkac511
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: e97
    Titles:
      – TitleFull: DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Khazeeva G
      – PersonEntity:
          Name:
            NameFull: Sablauskas K
      – PersonEntity:
          Name:
            NameFull: van der Sanden B
      – PersonEntity:
          Name:
            NameFull: Steyaert W
      – PersonEntity:
          Name:
            NameFull: Kwint M
      – PersonEntity:
          Name:
            NameFull: Rots D
      – PersonEntity:
          Name:
            NameFull: Hinne M
      – PersonEntity:
          Name:
            NameFull: van Gerven M
      – PersonEntity:
          Name:
            NameFull: Yntema H
      – PersonEntity:
          Name:
            NameFull: Vissers L
      – PersonEntity:
          Name:
            NameFull: Gilissen C
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 23
              M: 09
              Text: 2022 Sep 23
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1362-4962
          Numbering:
            – Type: volume
              Value: 50
            – Type: issue
              Value: 17
          Titles:
            – TitleFull: Nucleic acids research
              Type: main
ResultId 1