Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.

HomeCirculation: Genomic and Precision MedicineVol. 16, No. 1Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest No AccessReview ArticleRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessReview ArticleRequest AccessFull TextProactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest Brendan J. Floyd, Jochen Weile, Prince J. Kannankeril, Andrew M. Glazer, Chloe M. Reuter, Calum A. MacRae, Euan A. Ashley, Dan M. Roden, Frederick P. Roth and Victoria N. Parikh Brendan J. FloydBrendan J. Floyd https://orcid.org/0000-0003-3185-0174 Division of Cardiology, Department of Pediatrics, Stanford University Medical School, CA (B.J.F.). *B.J. Floyd & J. Weile contributed equally. Search for more papers by this author , Jochen WeileJochen Weile Lunenfeld-Tanenbaum Research Institute, Sinai Health (J.W., F.P.R.), University of Toronto, Ontario, Canada. The Donnelly Centre (J.W., F.P.R.), University of Toronto, Ontario, Canada. Departments of Molecular Genetics and Computer Science (J.W., F.P.R.), University of Toronto, Ontario, Canada. *B.J. Floyd & J. Weile contributed equally. Search for more papers by this author , Prince J. KannankerilPrince J. Kannankeril https://orcid.org/0000-0002-1529-9872 Center for Pediatric Precision Medicine, Department of Pediatrics (P.J.K.), Vanderbilt University Medical Center, Nashville, TN. Search for more papers by this author , Andrew M. GlazerAndrew M. Glazer https://orcid.org/0000-0002-3938-4713 Division of Clinical Pharmacology, Department of Medicine (A.M.G.), Vanderbilt University Medical Center, Nashville, TN. Search for more papers by this author , Chloe M. ReuterChloe M. Reuter https://orcid.org/0000-0002-0429-9922 Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine (C.M.R., E.A.A., V.N.P.), Stanford University, CA. Search for more papers by this author , Calum A. MacRaeCalum A. MacRae https://orcid.org/0000-0001-5181-2664 Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA (C.A.M.R.). Search for more papers by this author , Euan A. AshleyEuan A. Ashley https://orcid.org/0000-0001-9418-9577 Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine (C.M.R., E.A.A., V.N.P.), Stanford University, CA. Department of Genetics (E.A.A.), Stanford University, CA. †E.A. Ashley, D.M. Roden, F.P. Roth & V.N. Parikh contributed equally. Search for more papers by this author , Dan M. RodenDan M. Roden https://orcid.org/0000-0002-6302-0389 Division of Cardiovascular Medicine, Department of Medicine (D.M.R.), Vanderbilt University Medical Center, Nashville, TN. Department of Pharmacology (D.M.R.), Vanderbilt University Medical Center, Nashville, TN. Department of Biomedical Informatics (D.M.R.), Vanderbilt University Medical Center, Nashville, TN. †E.A. Ashley, D.M. Roden, F.P. Roth & V.N. Parikh contributed equally. Search for more papers by this author , Frederick P. RothFrederick P. Roth Lunenfeld-Tanenbaum Research Institute, Sinai Health (J.W., F.P.R.), University of Toronto, Ontario, Canada. The Donnelly Centre (J.W., F.P.R.), University of Toronto, Ontario, Canada. Departments of Molecular Genetics and Computer Science (J.W., F.P.R.), University of Toronto, Ontario, Canada. †E.A. Ashley, D.M. Roden, F.P. Roth & V.N. Parikh contributed equally. Search for more papers by this author and Victoria N. ParikhVictoria N. Parikh Correspondence to: Victoria N. Parikh, MD, Stanford University School of Medicine Center for Inherited Cardiovascular Disease Falk Building, Stanford Healthcare 870 Quarry Rd, Stanford, CA 94305. Email E-mail Address: [email protected] https://orcid.org/0000-0002-5138-5559 Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine (C.M.R., E.A.A., V.N.P.), Stanford University, CA. †E.A. Ashley, D.M. Roden, F.P. Roth & V.N. Parikh contributed equally. Search for more papers by this author Originally published30 Jan 2023https://doi.org/10.1161/CIRCGEN.122.003792Circulation: Genomic and Precision Medicine. 2023;16Footnotes*B.J. Floyd & J. Weile contributed equally.†E.A. Ashley, D.M. Roden, F.P. Roth & V.N. Parikh contributed equally.For Sources of Funding and Disclosures, see page 96.Correspondence to: Victoria N. Parikh, MD, Stanford University School of Medicine Center for Inherited Cardiovascular Disease Falk Building, Stanford Healthcare 870 Quarry Rd, Stanford, CA 94305. Email vparikh@stanford.eduReferences1. van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I. Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.Neth Heart J. 2019; 27:304–309. doi: 10.1007/s12471-019-1250-5CrossrefMedlineGoogle Scholar2. Weile J, Sun S, Cote AG, Knapp J, Verby M, Mellor JC, Wu Y, Pons C, Wong C, van Lieshout N, et al. A framework for exhaustively mapping functional missense variants.Mol Syst Biol. 2017; 13:957. doi: 10.15252/msb.20177908CrossrefMedlineGoogle Scholar3. Wu Y, Weile J, Cote AG, Sun S, Knapp J, Verby M, Roth FP. A web application and service for imputing and visualizing missense variant effect maps.Bioinformatics. 2019; 35:3191–3193. doi: 10.1093/bioinformatics/btz012CrossrefMedlineGoogle Scholar4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology.Genet Med. 2015; 17:405–424. doi: 10.1038/gim.2015.30CrossrefMedlineGoogle Scholar5. Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG, ClinGen Sequence Variant Interpretation working group (ClinGen SVI). Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.Genet Med. 2018; 20:1054–1060. doi: 10.1038/gim.2017.210CrossrefMedlineGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetails February 2023Vol 16, Issue 1 Advertisement Article InformationMetrics © 2023 American Heart Association, Inc.https://doi.org/10.1161/CIRCGEN.122.003792PMID: 36716194 Originally publishedJanuary 30, 2023 Keywordsclinical decision-makingcardiovascular diseasegenomicsdeath, sudden, cardiaccalmodulinPDF download Advertisement SubjectsElectrophysiologyPrecision MedicineSudden Cardiac Death