Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes

• Michael J. Xie ,

  Contributed equally to this work with: Michael J. Xie, Gareth A. Cromie

  Roles Conceptualization, Investigation, Methodology, Writing – original draft, Writing – review & editing

  Affiliations Pacific Northwest Research Institute, Seattle, Washington, United States of America, Molecular Engineering Graduate Program, University of Washington, Seattle, Washington, United States of America

  https://orcid.org/0000-0003-2617-3762

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• Gareth A. Cromie ,

  Contributed equally to this work with: Michael J. Xie, Gareth A. Cromie

  Roles Conceptualization, Formal analysis, Investigation, Software, Writing – original draft, Writing – review & editing

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0001-5265-1970

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• Katherine Owens,

  Roles Software, Writing – original draft

  Affiliations Pacific Northwest Research Institute, Seattle, Washington, United States of America, Department of Applied Mathematics, University of Washington, Seattle, Washington, United States of America

  https://orcid.org/0000-0002-5695-0203

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• Martin S. Timour,

  Roles Investigation

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  ⨯
• Michelle Tang,

  Roles Investigation, Writing – original draft

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0002-8779-8697

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• J. Nathan Kutz,

  Roles Funding acquisition, Software, Supervision

  Affiliation Department of Applied Mathematics, University of Washington, Seattle, Washington, United States of America

  https://orcid.org/0000-0002-6004-2275

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• Ayman W. El-Hattab,

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

  Affiliation Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates

  https://orcid.org/0000-0002-5737-5271

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• Richard N. McLaughlin Jr.,

  Roles Funding acquisition, Supervision, Writing – original draft

  Affiliation Pacific Northwest Research Institute, Seattle, Washington, United States of America

  https://orcid.org/0000-0003-0950-2253

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• Aimée M. Dudley

  Roles Conceptualization, Formal analysis, Funding acquisition, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: aimee.dudley@gmail.com

  Affiliations Pacific Northwest Research Institute, Seattle, Washington, United States of America, Molecular Engineering Graduate Program, University of Washington, Seattle, Washington, United States of America

  https://orcid.org/0000-0003-3644-0625

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