Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Saved in:
Bibliographic Details
Title: Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Authors: Kaschta D; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Post C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Gaass F; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Al-Tawil M; Department of Neonatology and Pediatric Intensive Care Medicine, Westphalian Children's Center Dortmund, University of Witten-Herdecke, Witten, Germany., Arriens V; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Balachandran S; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Bäumer T; Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Berge V; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland., Birgel F; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Dalski A; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Dittmar M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Franke A; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Franzenburg S; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Fuß J; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Gehring B; Neurology Center, Itzehoe, Germany., Gembicki R; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Greiten B; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Grohte K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Hanker B; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Händler K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Harder L; Institute of Tumorgenetic Nord, Kiel, Germany., Hellenbroich Y; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herrmann G; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Hiort O; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany., Hoff K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Hoffmann B; Practice for Neuropaediatrics, Lüneburg, Germany., Hornig N; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Hüning I; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Kautza-Lucht M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Köhler J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Liegmann AS; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Löscher BS; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Margraf NG; Epilepsy Center Kiel, Department of Neurology, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Department of Neurology, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University , Kiel, Germany., Meyenborg M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Möllring A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany., Penas EMM; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Nommels H; Group Practice for Pediatrics and Adolescent Medicine, Husum, Germany., Papingi D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Poggenburg I; Practice for Neuropaediatrics, Lüneburg, Germany., Pozojevic J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Rosenstiel P; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Recke A; Department of Dermatology, Allergology and Venereology, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Roberts K; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany., Rösler L; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.; Center for Rare Diseases, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany., Rust F; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Salewski MB; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Schau-Römer K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Sreenivasan VKA; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Toutouna L; Institute of Human Genetics, Faculty of Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany., Utermann-Thüsing C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Wehnert J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Wilson S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Woitschach R; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yumiceba V; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Zühlke C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Münchau A; Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.; Center for Rare Diseases, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Brüggemann N; Section for Movement Disorder, Department of Neurology, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany., Vater I; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Caliebe A; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany., Nagel I; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. Inga.nagel@uksh.de., Spielmann M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. malte.spielmann@uksh.de.; DZHK (German Centre for Cardiovascular Research), Partner SiteHamburg/ , Lübeck/Kiel, Lübeck, Germany. malte.spielmann@uksh.de.
Source: Genome medicine [Genome Med] 2025 Sep 18; Vol. 17 (1), pp. 100. Date of Electronic Publication: 2025 Sep 18.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med 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: 40963120
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kaschta+D%22">Kaschta D</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Post+C%22">Post C</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Gaass+F%22">Gaass F</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Al-Tawil+M%22">Al-Tawil M</searchLink>; Department of Neonatology and Pediatric Intensive Care Medicine, Westphalian Children's Center Dortmund, University of Witten-Herdecke, Witten, Germany.<br /><searchLink fieldCode="AU" term="%22Arriens+V%22">Arriens V</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Balachandran+S%22">Balachandran S</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Bäumer+T%22">Bäumer T</searchLink>; Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Berge+V%22">Berge V</searchLink>; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Birgel+F%22">Birgel F</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Dalski+A%22">Dalski A</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Dittmar+M%22">Dittmar M</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Franke+A%22">Franke A</searchLink>; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Franzenburg+S%22">Franzenburg S</searchLink>; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Fuß+J%22">Fuß J</searchLink>; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Gehring+B%22">Gehring B</searchLink>; Neurology Center, Itzehoe, Germany.<br /><searchLink fieldCode="AU" term="%22Gembicki+R%22">Gembicki R</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Greiten+B%22">Greiten B</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Grohte+K%22">Grohte K</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hanker+B%22">Hanker B</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Händler+K%22">Händler K</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Harder+L%22">Harder L</searchLink>; Institute of Tumorgenetic Nord, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Hellenbroich+Y%22">Hellenbroich Y</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Herget+T%22">Herget T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Herrmann+G%22">Herrmann G</searchLink>; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Hiort+O%22">Hiort O</searchLink>; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hoff+K%22">Hoff K</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+B%22">Hoffmann B</searchLink>; Practice for Neuropaediatrics, Lüneburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hornig+N%22">Hornig N</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hüning+I%22">Hüning I</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Kautza-Lucht+M%22">Kautza-Lucht M</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Köhler+J%22">Köhler J</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Liegmann+AS%22">Liegmann AS</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Lisfeld+J%22">Lisfeld J</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Löscher+BS%22">Löscher BS</searchLink>; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Margraf+NG%22">Margraf NG</searchLink>; Epilepsy Center Kiel, Department of Neurology, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Department of Neurology, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University , Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Meyenborg+M%22">Meyenborg M</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Möllring+A%22">Möllring A</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Muhle+H%22">Muhle H</searchLink>; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Penas+EMM%22">Penas EMM</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Nommels+H%22">Nommels H</searchLink>; Group Practice for Pediatrics and Adolescent Medicine, Husum, Germany.<br /><searchLink fieldCode="AU" term="%22Papingi+D%22">Papingi D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Poggenburg+I%22">Poggenburg I</searchLink>; Practice for Neuropaediatrics, Lüneburg, Germany.<br /><searchLink fieldCode="AU" term="%22Pozojevic+J%22">Pozojevic J</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Rosenstiel+P%22">Rosenstiel P</searchLink>; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Recke+A%22">Recke A</searchLink>; Department of Dermatology, Allergology and Venereology, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Roberts+K%22">Roberts K</searchLink>; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Rösler+L%22">Rösler L</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.; Center for Rare Diseases, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Rust+F%22">Rust F</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Salewski+MB%22">Salewski MB</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Schau-Römer+K%22">Schau-Römer K</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Schlein+C%22">Schlein C</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Sreenivasan+VKA%22">Sreenivasan VKA</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Toutouna+L%22">Toutouna L</searchLink>; Institute of Human Genetics, Faculty of Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Utermann-Thüsing+C%22">Utermann-Thüsing C</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22van+der+Ven+AT%22">van der Ven AT</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Volk+AE%22">Volk AE</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Wehnert+J%22">Wehnert J</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Wilson+S%22">Wilson S</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Woitschach+R%22">Woitschach R</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Yumiceba+V%22">Yumiceba V</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Zühlke+C%22">Zühlke C</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Münchau+A%22">Münchau A</searchLink>; Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.; Center for Rare Diseases, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Brüggemann+N%22">Brüggemann N</searchLink>; Section for Movement Disorder, Department of Neurology, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Vater+I%22">Vater I</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Caliebe+A%22">Caliebe A</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Nagel+I%22">Nagel I</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. Inga.nagel@uksh.de.<br /><searchLink fieldCode="AU" term="%22Spielmann+M%22">Spielmann M</searchLink>; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. malte.spielmann@uksh.de.; DZHK (German Centre for Cardiovascular Research), Partner SiteHamburg/ , Lübeck/Kiel, Lübeck, Germany. malte.spielmann@uksh.de.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2025 Sep 18; Vol. 17 (1), pp. 100. <i>Date of Electronic Publication: </i>2025 Sep 18.
– 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40963120
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13073-025-01516-7
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 100
    Titles:
      – TitleFull: Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kaschta D
      – PersonEntity:
          Name:
            NameFull: Post C
      – PersonEntity:
          Name:
            NameFull: Gaass F
      – PersonEntity:
          Name:
            NameFull: Al-Tawil M
      – PersonEntity:
          Name:
            NameFull: Arriens V
      – PersonEntity:
          Name:
            NameFull: Balachandran S
      – PersonEntity:
          Name:
            NameFull: Bäumer T
      – PersonEntity:
          Name:
            NameFull: Berge V
      – PersonEntity:
          Name:
            NameFull: Birgel F
      – PersonEntity:
          Name:
            NameFull: Dalski A
      – PersonEntity:
          Name:
            NameFull: Dittmar M
      – PersonEntity:
          Name:
            NameFull: Franke A
      – PersonEntity:
          Name:
            NameFull: Franzenburg S
      – PersonEntity:
          Name:
            NameFull: Fuß J
      – PersonEntity:
          Name:
            NameFull: Gehring B
      – PersonEntity:
          Name:
            NameFull: Gembicki R
      – PersonEntity:
          Name:
            NameFull: Greiten B
      – PersonEntity:
          Name:
            NameFull: Grohte K
      – PersonEntity:
          Name:
            NameFull: Hanker B
      – PersonEntity:
          Name:
            NameFull: Händler K
      – PersonEntity:
          Name:
            NameFull: Harder L
      – PersonEntity:
          Name:
            NameFull: Hellenbroich Y
      – PersonEntity:
          Name:
            NameFull: Herget T
      – PersonEntity:
          Name:
            NameFull: Herrmann G
      – PersonEntity:
          Name:
            NameFull: Hiort O
      – PersonEntity:
          Name:
            NameFull: Hoff K
      – PersonEntity:
          Name:
            NameFull: Hoffmann B
      – PersonEntity:
          Name:
            NameFull: Hornig N
      – PersonEntity:
          Name:
            NameFull: Hüning I
      – PersonEntity:
          Name:
            NameFull: Kautza-Lucht M
      – PersonEntity:
          Name:
            NameFull: Köhler J
      – PersonEntity:
          Name:
            NameFull: Liegmann AS
      – PersonEntity:
          Name:
            NameFull: Lisfeld J
      – PersonEntity:
          Name:
            NameFull: Löscher BS
      – PersonEntity:
          Name:
            NameFull: Margraf NG
      – PersonEntity:
          Name:
            NameFull: Meyenborg M
      – PersonEntity:
          Name:
            NameFull: Möllring A
      – PersonEntity:
          Name:
            NameFull: Muhle H
      – PersonEntity:
          Name:
            NameFull: Penas EMM
      – PersonEntity:
          Name:
            NameFull: Nommels H
      – PersonEntity:
          Name:
            NameFull: Papingi D
      – PersonEntity:
          Name:
            NameFull: Poggenburg I
      – PersonEntity:
          Name:
            NameFull: Pozojevic J
      – PersonEntity:
          Name:
            NameFull: Rosenstiel P
      – PersonEntity:
          Name:
            NameFull: Recke A
      – PersonEntity:
          Name:
            NameFull: Roberts K
      – PersonEntity:
          Name:
            NameFull: Rösler L
      – PersonEntity:
          Name:
            NameFull: Rust F
      – PersonEntity:
          Name:
            NameFull: Salewski MB
      – PersonEntity:
          Name:
            NameFull: Schau-Römer K
      – PersonEntity:
          Name:
            NameFull: Schlein C
      – PersonEntity:
          Name:
            NameFull: Sreenivasan VKA
      – PersonEntity:
          Name:
            NameFull: Toutouna L
      – PersonEntity:
          Name:
            NameFull: Utermann-Thüsing C
      – PersonEntity:
          Name:
            NameFull: van der Ven AT
      – PersonEntity:
          Name:
            NameFull: Volk AE
      – PersonEntity:
          Name:
            NameFull: Wehnert J
      – PersonEntity:
          Name:
            NameFull: Wilson S
      – PersonEntity:
          Name:
            NameFull: Woitschach R
      – PersonEntity:
          Name:
            NameFull: Yumiceba V
      – PersonEntity:
          Name:
            NameFull: Zühlke C
      – PersonEntity:
          Name:
            NameFull: Münchau A
      – PersonEntity:
          Name:
            NameFull: Brüggemann N
      – PersonEntity:
          Name:
            NameFull: Vater I
      – PersonEntity:
          Name:
            NameFull: Caliebe A
      – PersonEntity:
          Name:
            NameFull: Nagel I
      – PersonEntity:
          Name:
            NameFull: Spielmann M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 18
              M: 09
              Text: 2025 Sep 18
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1756-994X
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome medicine
              Type: main
ResultId 1