Academic Journal
Προβολή σε EDS

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Συγγραφείς: Kong, Sek WonAff1, Aff2, IDs4152502500480w_cor1, Lee, In-HeeAff1, Collen, Lauren V.Aff2, Aff3, Field, MichaelAff2, Aff3, Manrai, Arjun K.Aff4, Snapper, Scott B.Aff2, Aff3, Mandl, Kenneth D.Aff1, Aff2, Aff4
Πηγή: npj Genomic Medicine. 10(1)
Βάση Δεδομένων: Springer Nature Journals
FullText Links:
  – Type: other
Text:
  Availability: 0
CustomLinks:
  – Url: https://dx.doi.org/doi:10.1038/s41525-025-00480-w
    Name: EDS - Springer Nature Journals (s7799221)
    Category: fullText
    Text: View record at Springer
Header DbId: edssjs
DbLabel: Springer Nature Journals
An: edssjs.5F671C34
RelevancyScore: 965
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 964.858276367188
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Kong%2C+Sek+Won%22">Kong, Sek Won</searchLink><relatesTo>Aff1, Aff2, IDs4152502500480w_cor1</relatesTo><br /><searchLink fieldCode="AR" term="%22Lee%2C+In-Hee%22">Lee, In-Hee</searchLink><relatesTo>Aff1</relatesTo><br /><searchLink fieldCode="AR" term="%22Collen%2C+Lauren+V%2E%22">Collen, Lauren V.</searchLink><relatesTo>Aff2, Aff3</relatesTo><br /><searchLink fieldCode="AR" term="%22Field%2C+Michael%22">Field, Michael</searchLink><relatesTo>Aff2, Aff3</relatesTo><br /><searchLink fieldCode="AR" term="%22Manrai%2C+Arjun+K%2E%22">Manrai, Arjun K.</searchLink><relatesTo>Aff4</relatesTo><br /><searchLink fieldCode="AR" term="%22Snapper%2C+Scott+B%2E%22">Snapper, Scott B.</searchLink><relatesTo>Aff2, Aff3</relatesTo><br /><searchLink fieldCode="AR" term="%22Mandl%2C+Kenneth+D%2E%22">Mandl, Kenneth D.</searchLink><relatesTo>Aff1, Aff2, Aff4</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <i>npj Genomic Medicine</i>. 10(1)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=edssjs&AN=edssjs.5F671C34
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-025-00480-w
    Languages:
      – Text: English
    Titles:
      – TitleFull: Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kong, Sek Won
      – PersonEntity:
          Name:
            NameFull: Lee, In-Hee
      – PersonEntity:
          Name:
            NameFull: Collen, Lauren V.
      – PersonEntity:
          Name:
            NameFull: Field, Michael
      – PersonEntity:
          Name:
            NameFull: Manrai, Arjun K.
      – PersonEntity:
          Name:
            NameFull: Snapper, Scott B.
      – PersonEntity:
          Name:
            NameFull: Mandl, Kenneth D.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 12
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 20567944
          Numbering:
            – Type: volume
              Value: 10
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: npj Genomic Medicine
              Type: main
ResultId 1