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Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.

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Title: Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.
Authors: Chen Y; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Fayer S; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Jain S; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Benazouz M; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Molecular Engineering and Sciences Institute, University of Washington, Seattle, WA, USA., Sverchkov Y; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA., Stone J; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Sharma H; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Bergquist T; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Stewart R; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Mooney SD; Cyberinfrastructure and Artificial Intelligence Platforms Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, Bethesda, MD, USA., Craven M; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Starita LM; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Fowler DM; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Department of Bioengineering, University of Washington, Seattle, WA, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Source: Research square [Res Sq] 2026 May 08. Date of Electronic Publication: 2026 May 08.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Fayer+S%22">Fayer S</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Jain+S%22">Jain S</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Benazouz+M%22">Benazouz M</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Molecular Engineering and Sciences Institute, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Sverchkov+Y%22">Sverchkov Y</searchLink>; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA.<br /><searchLink fieldCode="AU" term="%22Stone+J%22">Stone J</searchLink>; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Sharma+H%22">Sharma H</searchLink>; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Bergquist+T%22">Bergquist T</searchLink>; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Stewart+R%22">Stewart R</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Mooney+SD%22">Mooney SD</searchLink>; Cyberinfrastructure and Artificial Intelligence Platforms Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Craven+M%22">Craven M</searchLink>; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA.<br /><searchLink fieldCode="AU" term="%22Radivojac+P%22">Radivojac P</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Starita+LM%22">Starita LM</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Fowler+DM%22">Fowler DM</searchLink>; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Department of Bioengineering, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pejaver+V%22">Pejaver V</searchLink>; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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              Text: 2026 May 08
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