ArticlemedRxiv : the preprint server for health sciences2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve
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Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
42 authors at 14 institutions in 7 countries.
Matthew J O'NeillVanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN, USA.ORCID 0000-0003-2014-7950
Chai-Ann NgMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.ORCID 0000-0002-3120-5450
Takanori AizawaDepartment of Cardiovascular Medicine, Kyoto University Graduate School of Medicine Kyoto, Japan.
Luca SalaIRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.ORCID 0000-0002-4129-6632
Sahej BainsDepartment of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
Annika WinboDepartment of Physiology, University of Auckland, Auckland, New Zealand.
Rizwan UllahVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Qianyi ShenMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.
Chek-Ying TanMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.
Krystian KozekVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Loren R VanagsVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Devyn W MitchellVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Alex ShenVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Yuko WadaVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Asami KashiwaDepartment of Cardiovascular Medicine, Kyoto University Graduate School of Medicine Kyoto, Japan.
Lia CrottiIRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
Federica DagradiIRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
Giulia MusuIRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
Carla SpazzoliniIRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
Raquel NevesDepartment of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
J Martijn BosDepartment of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
John R GiudicessiDepartment of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
Xavier BledsoeVanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN, USA.
Eric R GamazonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Megan LancasterVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Andrew M GlazerVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Bjorn C KnollmannVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Dan M RodenVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-6302-0389
Jochen WeileDepartment of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Frederick RothDepartment of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Joe-Elie SalemDepartment of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France.
Nikki EarleDepartment of Medicine, University of Auckland, Auckland, New Zealand.
Rachael StilesDepartment of Cardiology, Waikato Hospital, Hamilton, New Zealand.
Taylor AgeeDepartment of Chemistry, Mississippi State University, Starkville, MS 39759, USA.
Christopher N JohnsonDepartment of Chemistry, Mississippi State University, Starkville, MS 39759, USA.
Minoru HorieDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Shiga, Japan.
Jonathan SkinnerSydney Children's Hospital Network, University of Sydney, Sydney, Australia.
Michael J AckermanDepartment of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA.
Peter J SchwartzIRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
Seiko OhnoDepartment of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.ORCID 0000-0003-1209-8896
Jamie I VandenbergMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.ORCID 0000-0002-3859-3716
Brett M KronckeVanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-6215-0803
Vanderbilt University Medical Center · USIRCCS Istituto Auxologico Italiano · ITMayo Clinic · USVictor Chang Cardiac Research Institute · AUKyoto University · JPMississippi State University · USUniversity of Auckland · NZUniversity of Toronto · CAVanderbilt University · USNational Cerebral and Cardiovascular Center · JPShiga University of Medical Science · JPThe University of Sydney · AUUniversité Paris Cité · FRWaikato Hospital · NZ
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ben Ho Park · 1995 to 2026
$172.8MTranslational Analysis CoreP30DK058404 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MARY Kay WASHINGTON · 2002 to 2026
$29.9MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3MSystematically mapping variant effects for cardiovascular genesR01HL164675 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ASHLEY, EUAN A, RODEN, DAN M · 2022 to 2025
$8.1MMedical Scientist Training ProgramT32GM152284 · NIGMS · VANDERBILT UNIVERSITY · PI Christopher S. Williams · 2024 to 2026
$4.8MIntegrating KCNH2 Variant-Specific Features and Heterozygote Phenotypes to Estimate Long QT PenetranceR01HL160863 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Brett M Kroncke · 2022 to 2026
$2.9MAberrant Splicing in the Cardiac ArrhythmiasF30HL163923 · NHLBI · VANDERBILT UNIVERSITY · PI O'NEILL, MATTHEW · 2022 to 2023
$61kNCI NIH HHS P30 CA068485NHLBI NIH HHS F30 HL163923NHLBI NIH HHS R01 HL160863NHLBI NIH HHS R01 HL164675NIDDK NIH HHS P30 DK058404NIGMS NIH HHS T32 GM007347NIGMS NIH HHS T32 GM152284
Abstract
Background: Long QT syndrome (LQTS) is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by Methods: We quantified cell-surface trafficking of 18,796 variants in Results: Variant MAVE trafficking scores and APC peak tail currents were highly correlated (Spearman Rank-order ρ = 0.69). The MAVE data were found to provide up to Conclusion: High throughput
Indexed as
arrhythmiasautomated patch-clampingLQTSmultiplexed assay of variant effectrisk stratification
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