View in EDS

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Saved in:
Bibliographic Details
Title: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Authors: Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA; shiatt@hudsonalpha.org gcooper@hudsonalpha.org., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Handley LH; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Bonnstetter ZT; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Boston LB; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Williams M; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Rodriguez Nunez I; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Jenkins J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Lopez MA; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA., Schmutz J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Grimwood J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA; shiatt@hudsonalpha.org gcooper@hudsonalpha.org.
Source: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 1747-1762. Date of Electronic Publication: 2024 Nov 20.
Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39299904
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hiatt+SM%22">Hiatt SM</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA; shiatt@hudsonalpha.org gcooper@hudsonalpha.org.<br /><searchLink fieldCode="AU" term="%22Lawlor+JMJ%22">Lawlor JMJ</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Handley+LH%22">Handley LH</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Latner+DR%22">Latner DR</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Bonnstetter+ZT%22">Bonnstetter ZT</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Finnila+CR%22">Finnila CR</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Thompson+ML%22">Thompson ML</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Boston+LB%22">Boston LB</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Rodriguez+Nunez+I%22">Rodriguez Nunez I</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Jenkins+J%22">Jenkins J</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Kelley+WV%22">Kelley WV</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Bebin+EM%22">Bebin EM</searchLink>; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.<br /><searchLink fieldCode="AU" term="%22Lopez+MA%22">Lopez MA</searchLink>; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.<br /><searchLink fieldCode="AU" term="%22Korf+BR%22">Korf BR</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35924, USA.<br /><searchLink fieldCode="AU" term="%22Schmutz+J%22">Schmutz J</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Grimwood+J%22">Grimwood J</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.<br /><searchLink fieldCode="AU" term="%22Cooper+GM%22">Cooper GM</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA; shiatt@hudsonalpha.org gcooper@hudsonalpha.org.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229518021%22">Genome research</searchLink> [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 1747-1762. <i>Date of Electronic Publication: </i>2024 Nov 20.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9518021 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1549-5469 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210889051%22">10889051 </searchLink><i>NLM ISO Abbreviation: </i>Genome Res <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39299904
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1101/gr.279227.124
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1747
    Titles:
      – TitleFull: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hiatt SM
      – PersonEntity:
          Name:
            NameFull: Lawlor JMJ
      – PersonEntity:
          Name:
            NameFull: Handley LH
      – PersonEntity:
          Name:
            NameFull: Latner DR
      – PersonEntity:
          Name:
            NameFull: Bonnstetter ZT
      – PersonEntity:
          Name:
            NameFull: Finnila CR
      – PersonEntity:
          Name:
            NameFull: Thompson ML
      – PersonEntity:
          Name:
            NameFull: Boston LB
      – PersonEntity:
          Name:
            NameFull: Williams M
      – PersonEntity:
          Name:
            NameFull: Rodriguez Nunez I
      – PersonEntity:
          Name:
            NameFull: Jenkins J
      – PersonEntity:
          Name:
            NameFull: Kelley WV
      – PersonEntity:
          Name:
            NameFull: Bebin EM
      – PersonEntity:
          Name:
            NameFull: Lopez MA
      – PersonEntity:
          Name:
            NameFull: Hurst ACE
      – PersonEntity:
          Name:
            NameFull: Korf BR
      – PersonEntity:
          Name:
            NameFull: Schmutz J
      – PersonEntity:
          Name:
            NameFull: Grimwood J
      – PersonEntity:
          Name:
            NameFull: Cooper GM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 20
              M: 11
              Text: 2024 Nov 20
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1549-5469
          Numbering:
            – Type: volume
              Value: 34
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Genome research
              Type: main
ResultId 1