PERADIGM: Phenotype embedding similarity-based rare disease gene mapping

Wangjie Zheng; Yuhan Xie; Jianlei Gu; Hongyu Li; Stefan Somlo; Whitney Besse; Hongyu Zhao

doi:10.1371/journal.pgen.1011976

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Open Access

Peer-reviewed

Research Article

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping

Wangjie Zheng,

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliation Department of Biostatistics, Yale University, New Haven, Connecticut, United States of America
⨯
Yuhan Xie,

Roles Conceptualization, Data curation

Affiliation Department of Biostatistics, Yale University, New Haven, Connecticut, United States of America

https://orcid.org/0000-0002-1738-0885

⨯
Jianlei Gu,

Roles Data curation

Affiliation Department of Biostatistics, Yale University, New Haven, Connecticut, United States of America
⨯
Hongyu Li,

Roles Formal analysis

Affiliation Department of Biostatistics, Yale University, New Haven, Connecticut, United States of America
⨯
Stefan Somlo,

Roles Conceptualization, Supervision

Affiliation Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, Connecticut, United States of America
⨯
Whitney Besse,

Roles Conceptualization, Supervision

Affiliation Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, Connecticut, United States of America

https://orcid.org/0000-0002-8283-1507

⨯
Hongyu Zhao

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

* E-mail: hongyu.zhao@yale.edu

Affiliation Department of Biostatistics, Yale University, New Haven, Connecticut, United States of America

https://orcid.org/0000-0003-1195-9607

⨯

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping

Wangjie Zheng,
Yuhan Xie,
Jianlei Gu,
Hongyu Li,
Stefan Somlo,
Whitney Besse,
Hongyu Zhao

Published: December 18, 2025
https://doi.org/10.1371/journal.pgen.1011976

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