VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants

• Rui Yin,

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

  Affiliations Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America, Department of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, Florida, United States of America

  https://orcid.org/0000-0002-1403-0396

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• Alba Gutiérrez-Sacristán,

  Roles Investigation, Software, Writing – original draft, Writing – review & editing

  Affiliation Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America

  https://orcid.org/0000-0002-1245-198X

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• Undiagnosed Diseases Network ,

  ¶‡ Undiagnosed Diseases Network, Membership of the Undiagnosed Diseases Network is provided in Supporting information file S1 Text.

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• Shilpa Nadimpalli Kobren ,

  Roles Formal analysis, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: shilpa_kobren@hms.harvard.edu (SNK); paul_avillach@hms.harvard.edu (PA)

  Affiliation Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America

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• Paul Avillach

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: shilpa_kobren@hms.harvard.edu (SNK); paul_avillach@hms.harvard.edu (PA)

  Affiliation Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America

  https://orcid.org/0000-0002-0235-7543

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