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Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

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Title: Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
Authors: Pendyala S; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Medical Scientist Training Program, University of Washington, Seattle, WA 98195, USA., Partington K; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA., Bradley N; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., McEwen AE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA., Straub G; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Kim HJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Fayer S; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Holmes DL; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Sitko KA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Garge RK; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Wang ZR; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Wheelock MK; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Vandi AJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Powell RL; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Friedman CE; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA 98109, USA; Center for Cardiovascular Biology, University of Washington, Seattle, WA 98109, USA; Department of Medicine/Cardiology, University of Washington, Seattle, WA 98109, USA., McDermot E; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Kishore N; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Roth FP; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Rubin AF; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC 3010, Australia; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3050, Australia., Yang KC; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA 98109, USA; Center for Cardiovascular Biology, University of Washington, Seattle, WA 98109, USA; Department of Medicine/Cardiology, University of Washington, Seattle, WA 98109, USA; Cardiology, Hospital Specialty Medicine, VA Puget Sound HCS, Seattle, WA 98108, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Noble WS; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: dfowler@uw.edu.
Source: Cell [Cell] 2026 Jun 25; Vol. 189 (13), pp. 4040-4058.e31. Date of Electronic Publication: 2026 May 12.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE
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  Data: Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.
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  Data: <searchLink fieldCode="AU" term="%22Pendyala+S%22">Pendyala S</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Medical Scientist Training Program, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Partington+K%22">Partington K</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Bradley+N%22">Bradley N</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22McEwen+AE%22">McEwen AE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Straub+G%22">Straub G</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Kim+HJ%22">Kim HJ</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Fayer+S%22">Fayer S</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Holmes+DL%22">Holmes DL</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Sitko+KA%22">Sitko KA</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Garge+RK%22">Garge RK</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Wang+ZR%22">Wang ZR</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Wheelock+MK%22">Wheelock MK</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Vandi+AJ%22">Vandi AJ</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Powell+RL%22">Powell RL</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+CE%22">Friedman CE</searchLink>; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA 98109, USA; Center for Cardiovascular Biology, University of Washington, Seattle, WA 98109, USA; Department of Medicine/Cardiology, University of Washington, Seattle, WA 98109, USA.<br /><searchLink fieldCode="AU" term="%22McDermot+E%22">McDermot E</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Kishore+N%22">Kishore N</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.<br /><searchLink fieldCode="AU" term="%22Roth+FP%22">Roth FP</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.<br /><searchLink fieldCode="AU" term="%22Rubin+AF%22">Rubin AF</searchLink>; Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC 3010, Australia; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3050, Australia.<br /><searchLink fieldCode="AU" term="%22Yang+KC%22">Yang KC</searchLink>; Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA 98109, USA; Center for Cardiovascular Biology, University of Washington, Seattle, WA 98109, USA; Department of Medicine/Cardiology, University of Washington, Seattle, WA 98109, USA; Cardiology, Hospital Specialty Medicine, VA Puget Sound HCS, Seattle, WA 98108, USA.<br /><searchLink fieldCode="AU" term="%22Starita+LM%22">Starita LM</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Noble+WS%22">Noble WS</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Fowler+DM%22">Fowler DM</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: dfowler@uw.edu.
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  Data: <searchLink fieldCode="JN" term="%220413066%22">Cell</searchLink> [Cell] 2026 Jun 25; Vol. 189 (13), pp. 4040-4058.e31. <i>Date of Electronic Publication: </i>2026 May 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0413066 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-4172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200928674%22">00928674 </searchLink><i>NLM ISO Abbreviation: </i>Cell <i>Subsets: </i>MEDLINE
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