ClinGen API platform for classification of human genetic variants.

Saved in:
Bibliographic Details
Title: ClinGen API platform for classification of human genetic variants.
Authors: Shah N; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Farris T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Zuniga AA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Jackson AR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Arce J; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Preston CG; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA., Mandell ME; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA., Wulf B; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA., Cheung G; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA., Yu K; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Ritter DI; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Jevtic D; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA., Milinkov M; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA., Martinovic N; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA., Vucinic N; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA., Mihajlovic A; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA., Rubin AF; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Cline MS; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA., Distefano M; Medical and Population Genetics Group, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Griffith M; Washington University School of Medicine, St. Louis, MO 63110, USA., Griffith OL; Washington University School of Medicine, St. Louis, MO 63110, USA., Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA., Klein TE; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA., Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. Electronic address: amilosav@bcm.edu.
Source: Cell genomics [Cell Genom] 2026 Apr 08; Vol. 6 (4), pp. 101211.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41956073
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: ClinGen API platform for classification of human genetic variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Shah+N%22">Shah N</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Farris+T%22">Farris T</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Zuniga+AA%22">Zuniga AA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Jackson+AR%22">Jackson AR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Arce+J%22">Arce J</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Riehle+K%22">Riehle K</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Preston+CG%22">Preston CG</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Mandell+ME%22">Mandell ME</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Wulf+B%22">Wulf B</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Cheung+G%22">Cheung G</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Yu+K%22">Yu K</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Ritter+DI%22">Ritter DI</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Jevtic+D%22">Jevtic D</searchLink>; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.<br /><searchLink fieldCode="AU" term="%22Milinkov+M%22">Milinkov M</searchLink>; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.<br /><searchLink fieldCode="AU" term="%22Martinovic+N%22">Martinovic N</searchLink>; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.<br /><searchLink fieldCode="AU" term="%22Vucinic+N%22">Vucinic N</searchLink>; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.<br /><searchLink fieldCode="AU" term="%22Mihajlovic+A%22">Mihajlovic A</searchLink>; Persida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.<br /><searchLink fieldCode="AU" term="%22Rubin+AF%22">Rubin AF</searchLink>; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Cline+MS%22">Cline MS</searchLink>; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.<br /><searchLink fieldCode="AU" term="%22Distefano+M%22">Distefano M</searchLink>; Medical and Population Genetics Group, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Griffith+M%22">Griffith M</searchLink>; Washington University School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Griffith+OL%22">Griffith OL</searchLink>; Washington University School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Wright+MW%22">Wright MW</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Klein+TE%22">Klein TE</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Plon+SE%22">Plon SE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Milosavljevic+A%22">Milosavljevic A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. Electronic address: amilosav@bcm.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229918284260106676%22">Cell genomics</searchLink> [Cell Genom] 2026 Apr 08; Vol. 6 (4), pp. 101211.
– 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="%22Elsevier%2C+Inc%22">Elsevier, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9918284260106676 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2666-979X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222666979X%22">2666979X </searchLink><i>NLM ISO Abbreviation: </i>Cell Genom <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41956073
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.xgen.2026.101211
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101211
    Titles:
      – TitleFull: ClinGen API platform for classification of human genetic variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Shah N
      – PersonEntity:
          Name:
            NameFull: Farris T
      – PersonEntity:
          Name:
            NameFull: Zuniga AA
      – PersonEntity:
          Name:
            NameFull: Jackson AR
      – PersonEntity:
          Name:
            NameFull: Arce J
      – PersonEntity:
          Name:
            NameFull: Riehle K
      – PersonEntity:
          Name:
            NameFull: Preston CG
      – PersonEntity:
          Name:
            NameFull: Mandell ME
      – PersonEntity:
          Name:
            NameFull: Wulf B
      – PersonEntity:
          Name:
            NameFull: Cheung G
      – PersonEntity:
          Name:
            NameFull: Yu K
      – PersonEntity:
          Name:
            NameFull: Ritter DI
      – PersonEntity:
          Name:
            NameFull: Jevtic D
      – PersonEntity:
          Name:
            NameFull: Milinkov M
      – PersonEntity:
          Name:
            NameFull: Martinovic N
      – PersonEntity:
          Name:
            NameFull: Vucinic N
      – PersonEntity:
          Name:
            NameFull: Mihajlovic A
      – PersonEntity:
          Name:
            NameFull: Rubin AF
      – PersonEntity:
          Name:
            NameFull: Cline MS
      – PersonEntity:
          Name:
            NameFull: Distefano M
      – PersonEntity:
          Name:
            NameFull: Griffith M
      – PersonEntity:
          Name:
            NameFull: Griffith OL
      – PersonEntity:
          Name:
            NameFull: Wright MW
      – PersonEntity:
          Name:
            NameFull: Klein TE
      – PersonEntity:
          Name:
            NameFull: Plon SE
      – PersonEntity:
          Name:
            NameFull: Milosavljevic A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 04
              Text: 2026 Apr 08
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2666-979X
          Numbering:
            – Type: volume
              Value: 6
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Cell genomics
              Type: main
ResultId 1