A scalable approach to resolving variants of uncertain significance.

Saved in:
Bibliographic Details
Title: A scalable approach to resolving variants of uncertain significance.
Authors: Tejura M; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Chen Y; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.; These authors contributed equally., McEwen AE; 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 Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Stewart R; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.; These authors contributed equally., Sverchkov Y; Department of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI, USA.; These authors contributed equally., Laval F; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA.; These authors contributed equally., Woo I; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Zeiberg D; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.; These authors contributed equally., Shen R; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; These authors contributed equally., Fayer S; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Stone J; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; These authors contributed equally., Smith N; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Casadei S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Wang ZR; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Snyder MW; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Capodanno BJ; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Gupta P; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA., Benazouz M; Molecular Engineering and Sciences Institute, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Jain S; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Heidl S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Muffley L; 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., Dong S; Department of Genetics, Stanford University, Stanford, CA, USA., Hitz BC; Department of Genetics, Stanford University, Stanford, CA, USA., Gabdank I; Department of Genetics, Stanford University, Stanford, CA, USA., Lin K; Department of Genetics, Stanford University, Stanford, CA, USA., Da EY; Department of Bioinformatics, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Best S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Grindstaff S; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Reinhart D; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Rodriguez-Salas L; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Seid O; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Vandi AJ; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Wenman C; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Wheelock MK; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington, Seattle, WA, USA., Holmes D; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA., Xu A; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Hosokai A; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA., Tixhon M; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Reno C; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Ewald JD; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, UK., Spirohn-Fitzgerald K; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Teelucksingh T; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Hao T; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Chen ZS; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Haghighi M; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hamid AK; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Miglietta EA; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisbart E; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Coppin G; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Lambourne L; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Gebbia M; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada., Coté AG; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada., van Loggerenberg W; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Fawcett KM; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Steiner RD; Department of Pediatrics, University of Wisconsin-Madison, Madison, WA, USA.; Wisconsin Department of Health Services, Madison, WA, USA., Johnsen JM; Division of Hematology and Oncology, Department of Medicine, University of Washington, Seattle, WA, USA.; Center for Cardiovascular Biology, University of Washington, Seattle, WA, USA., Stergachis AB; Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA, USA.; Division of Medical Genetics, School of Medicine, University of Washington, Seattle, WA, USA., Iakoucheva LM; Department of Psychiatry, University of California San Diego, La Jolla, CA, USA., Singh S; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cimini BA; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Roth FP; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, ON, Canada.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Computer Science, University of Toronto, Toronto, ON, Canada., James RG; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA., Vidal M; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA., Taipale M; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Carpenter AE; Imaging Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Calderwood MA; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA., Craven M; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, 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., Rubin AF; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 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., 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.
Corporate Authors: IGVF Coding Variants Focus Group
Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 23. Date of Electronic Publication: 2026 Feb 23.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2692-8205
DOI:10.64898/2026.02.14.705848