An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

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Title: An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
Authors: Biar CG; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA., Wang ZR; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Camp ND; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA., Holmes DL; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Wheelock MK; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, University of Washington, Seattle, WA, USA., McGee AV; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Gupta P; Department of Genome Sciences, University of Washington, Seattle, WA, USA., McEwen AE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Tejura M; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Richardson ME; Ambry Genetics, Aliso Viejo, CA, USA., Weyandt JD; Ambry Genetics, Aliso Viejo, CA, USA., Coleman T; Ambry Genetics, Aliso Viejo, CA, USA., Rubin AF; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia., Moore N; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia., Stewart R; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Zeiberg D; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Vandi AJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Dawson S; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA., Radivojac P; The Institute for Experiential AI, Northeastern University, Boston, MA, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA., James RG; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA. rickerj@u.washington.edu.; Department of Pediatrics and Pharmacology, University of Washington, Seattle, WA, USA. rickerj@u.washington.edu., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA. dfowler@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. dfowler@uw.edu.; Department of Bioengineering, University of Washington, Seattle, WA, USA. dfowler@uw.edu., Calhoun JD; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA. jeffrey.calhoun@northwestern.edu.
Source: Nature communications [Nat Commun] 2026 Jul 09. Date of Electronic Publication: 2026 Jul 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Biar+CG%22">Biar CG</searchLink>; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Wang+ZR%22">Wang ZR</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Camp+ND%22">Camp ND</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Holmes+DL%22">Holmes DL</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Wheelock+MK%22">Wheelock MK</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pendyala+S%22">Pendyala S</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22McGee+AV%22">McGee AV</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gupta+P%22">Gupta P</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22McEwen+AE%22">McEwen AE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Tejura+M%22">Tejura M</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Richardson+ME%22">Richardson ME</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Weyandt+JD%22">Weyandt JD</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Coleman+T%22">Coleman T</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rubin+AF%22">Rubin AF</searchLink>; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Moore+N%22">Moore N</searchLink>; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Stewart+R%22">Stewart R</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zeiberg+D%22">Zeiberg D</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Vandi+AJ%22">Vandi AJ</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Dawson+S%22">Dawson S</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Radivojac+P%22">Radivojac P</searchLink>; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Starita+LM%22">Starita LM</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Carvill+GL%22">Carvill GL</searchLink>; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22James+RG%22">James RG</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA. rickerj@u.washington.edu.; Department of Pediatrics and Pharmacology, University of Washington, Seattle, WA, USA. rickerj@u.washington.edu.<br /><searchLink fieldCode="AU" term="%22Fowler+DM%22">Fowler DM</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA. dfowler@uw.edu.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. dfowler@uw.edu.; Department of Bioengineering, University of Washington, Seattle, WA, USA. dfowler@uw.edu.<br /><searchLink fieldCode="AU" term="%22Calhoun+JD%22">Calhoun JD</searchLink>; Ken and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, IL, USA. jeffrey.calhoun@northwestern.edu.
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