5/6/2023 0 Comments Iftikhar j. kullo![]() ![]() ![]() I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as. This project was approved by the Institutional Review Boards of the individual participating centers.Īll necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived. The details of the IRB/oversight body that provided approval or exemption for the research described are given below: I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. The contents of this publication are solely the responsibility of the authors and do not necessarily represent official views of the National Center for Advancing Translational Sciences or the National Institutes of Health. UL1TR000445 from the National Center for Advancing Translational Sciences. The Synthetic Derivative resource is supported by CTSA award No. This research was also funded by NIH grants K99 HG010904 (AMG), R01 HL149826 (DMR), NIH R01 HL128075 and an AHA SFRN (EMM), R01 HL122010 (ALG).Įlectrocardiographic data at Vanderbilt University Medical Center were obtained using Vanderbilt's Synthetic Derivative. This phase of the eMERGE Network was initiated and funded by the NHGRI through the following grants: U01HG8657 (Kaiser Permanente Washington/University of Washington) U01HG8685 (Brigham and Women's Hospital) U01HG8672 (Vanderbilt University Medical Center) U01HG8666 (Cincinnati Children's Hospital Medical Center) U01HG6379 (Mayo Clinic) U01HG8679 (Geisinger Clinic) U01HG8680 (Columbia University Irving Medical Center) U01HG8684 (Children's Hospital of Philadelphia) U01HG8673 (Northwestern University) U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center) U01HG8676 (Partners Healthcare/Broad Institute) and U01HG8664 (Baylor College of Medicine). This project used datasets obtained for the eMERGE Network (Phase III). None of these activities are related to the content of this work. ALG is a paid member of Amgen Scientific Advisory Board for Cardiometabolic Disorders, and a recipient of industry sponsored research grant from Tevard Biosciences (unrelated science). Competing Interest StatementĮMM consults for Amgen, Avidity, AstraZeneca, Cytokinetics, Invitae, 4D Molecular Therapeutics, Janssen, Pfizer and Tenaya Therapeutics she is the founder of Ikaika Therapeutics. As large numbers of people are sequenced, the disease risk from rare variants in arrhythmia genes can be assessed by integrating genomic screening, EHR phenotypes, and in vitro functional studies. After in vitro functional evaluation of 50 variants of uncertain significance (VUS), we reclassified 11 variants: 3 to likely benign and 8 to P/LP. Eighteen of these 51 participants had inherited arrhythmia syndrome diagnoses (primarily long QT syndrome), and 11/18 of these diagnoses were made only after variant results were returned. Fifty one participants had variant results returned. Compared to non-carriers, P/LP carriers had a significantly higher burden of arrhythmia phenotypes in their electronic health records (EHRs). In 21,846 eMERGE-III participants, sequencing 10 arrhythmia syndrome disease genes identified 123 individuals with pathogenic or likely pathogenic (P/LP) variants. ![]()
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