View in EDS HTML Full Text PDF Full Text

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.

Saved in:
Bibliographic Details
Title: The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.
Authors: Kafkas Ş; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. senay.kafkas@kaust.edu.sa.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. senay.kafkas@kaust.edu.sa., Abdelhakim M; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia., Althagafi A; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, 26571, Taif, Saudi Arabia., Toonsi S; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia., Alghamdi M; Medical Genetic Division, Department of Pediatrics, College of Medicine, King Saud University, 11461, Riyadh, Saudi Arabia., Schofield PN; Department of Physiology, Development & Neuroscience, University of Cambridge, Cambridge, CB2 3EG, UK., Hoehndorf R; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.
Source: Scientific reports [Sci Rep] 2025 Apr 29; Vol. 15 (1), pp. 15093. Date of Electronic Publication: 2025 Apr 29.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep 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: 40301638
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kafkas+Ş%22">Kafkas Ş</searchLink>; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. senay.kafkas@kaust.edu.sa.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. senay.kafkas@kaust.edu.sa.<br /><searchLink fieldCode="AU" term="%22Abdelhakim+M%22">Abdelhakim M</searchLink>; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Althagafi+A%22">Althagafi A</searchLink>; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, 26571, Taif, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Toonsi+S%22">Toonsi S</searchLink>; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alghamdi+M%22">Alghamdi M</searchLink>; Medical Genetic Division, Department of Pediatrics, College of Medicine, King Saud University, 11461, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Schofield+PN%22">Schofield PN</searchLink>; Department of Physiology, Development & Neuroscience, University of Cambridge, Cambridge, CB2 3EG, UK.<br /><searchLink fieldCode="AU" term="%22Hoehndorf+R%22">Hoehndorf R</searchLink>; Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; SDAIA-KAUST Center of Excellence in Data Science and Artificial Intelligence, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; KAUST Center of Excellence for Smart Health (KCSH), King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.; KAUST Center of Excellence for Generative AI, King Abdullah University of Science and Technology, 23955, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2025 Apr 29; Vol. 15 (1), pp. 15093. <i>Date of Electronic Publication: </i>2025 Apr 29.
– 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="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40301638
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41598-025-99539-y
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 15093
    Titles:
      – TitleFull: The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kafkas Ş
      – PersonEntity:
          Name:
            NameFull: Abdelhakim M
      – PersonEntity:
          Name:
            NameFull: Althagafi A
      – PersonEntity:
          Name:
            NameFull: Toonsi S
      – PersonEntity:
          Name:
            NameFull: Alghamdi M
      – PersonEntity:
          Name:
            NameFull: Schofield PN
      – PersonEntity:
          Name:
            NameFull: Hoehndorf R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 29
              M: 04
              Text: 2025 Apr 29
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2045-2322
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Scientific reports
              Type: main
ResultId 1