Language models reveal evidence gaps in variants of uncertain significance.

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Title: Language models reveal evidence gaps in variants of uncertain significance.
Authors: Li W; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA., Bhat V; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA., Yu T; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA., Lebo M; Mass General Brigham Personalized Medicine, Boston, MA, USA.; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA., Zitnik M; Harvard Medical School, Boston, MA, USA., Cassa C; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 02. Date of Electronic Publication: 2026 Mar 02.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41867208
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Language models reveal evidence gaps in variants of uncertain significance.
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  Data: <searchLink fieldCode="AU" term="%22Li+W%22">Li W</searchLink>; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bhat+V%22">Bhat V</searchLink>; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Yu+T%22">Yu T</searchLink>; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lebo+M%22">Lebo M</searchLink>; Mass General Brigham Personalized Medicine, Boston, MA, USA.; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zitnik+M%22">Zitnik M</searchLink>; Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Cassa+C%22">Cassa C</searchLink>; Brigham and Women's Hospital / Harvard Medical School, Boston, MA, USA.
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  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2026 Mar 02. <i>Date of Electronic Publication: </i>2026 Mar 02.
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41867208
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.64898/2026.02.28.26347206
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      – Code: eng
        Text: English
    Titles:
      – TitleFull: Language models reveal evidence gaps in variants of uncertain significance.
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          Name:
            NameFull: Li W
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            NameFull: Bhat V
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            NameFull: Yu T
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            NameFull: Lebo M
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            NameFull: Zitnik M
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            NameFull: Cassa C
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          Dates:
            – D: 02
              M: 03
              Text: 2026 Mar 02
              Type: published
              Y: 2026
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            – TitleFull: MedRxiv : the preprint server for health sciences
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