Voltar
Artigo Acesso aberto Revisado por pares
BIBTEX RIS

Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research

2023; Wolters Kluwer; Volume: 16; Issue: 6 Linguagem: Inglês

10.1161/circgen.123.004181

ISSN

2574-8300

Autores

Maria C. Costanzo, Carolina Roselli, MacKenzie Brandes, Marc Duby, Quy Hoang, Dongkeun Jang, Ryan Koesterer, Parul Kudtarkar, Annie Moriondo, Trang Thi Huyen Nguyen, Oliver Ruebenacker, Patrick Smadbeck, Ying Sun, Adam S. Butterworth, Krishna G. Aragam, R. Thomas Lumbers, Amit V. Khera, Steven A. Lubitz, Patrick T. Ellinor, Kyle J. Gaulton, Jason Flannick, Noël P. Burtt,

Tópico(s)

Bioinformatics and Genomic Networks

Resumo

HomeCirculation: Genomic and Precision MedicineVol. 16, No. 6Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research No AccessResearch ArticleRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessResearch ArticleRequest AccessFull TextCardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research Maria C. Costanzo, Carolina Roselli, MacKenzie Brandes, Marc Duby, Quy Hoang, Dongkeun Jang, Ryan Koesterer, Parul Kudtarkar, Annie Moriondo, Trang Nguyen, Oliver Ruebenacker, Patrick Smadbeck, Ying Sun, Adam S. Butterworth, Krishna G. Aragam, R. Thomas Lumbers, Amit V. Khera, Steven A. Lubitz, Patrick T. Ellinor, Kyle J. Gaulton, Jason Flannick and Noël P. Burtt Maria C. CostanzoMaria C. Costanzo https://orcid.org/0000-0001-9043-693X Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Carolina RoselliCarolina Roselli https://orcid.org/0000-0001-5267-6756 Precision Cardiology Laboratory (C.R.), The Broad Institute of MIT and Harvard, Cambridge, MA. Department of Cardiology, University of Groningen, University Medical Center Groningen, the Netherlands (C.R.). , MacKenzie BrandesMacKenzie Brandes Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Marc DubyMarc Duby https://orcid.org/0000-0002-3884-6680 Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Quy HoangQuy Hoang https://orcid.org/0000-0002-7140-6097 Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Dongkeun JangDongkeun Jang Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Ryan KoestererRyan Koesterer https://orcid.org/0009-0006-0129-6415 Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Parul KudtarkarParul Kudtarkar Department of Pediatrics, University of California San Diego, La Jolla (P.K., Y.S., K.J.G.). , Annie MoriondoAnnie Moriondo https://orcid.org/0009-0000-2948-2582 Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Trang NguyenTrang Nguyen https://orcid.org/0009-0004-9413-5965 Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Oliver RuebenackerOliver Ruebenacker Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Patrick SmadbeckPatrick Smadbeck https://orcid.org/0000-0002-4904-7454 Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. , Ying SunYing Sun Department of Pediatrics, University of California San Diego, La Jolla (P.K., Y.S., K.J.G.). , Adam S. ButterworthAdam S. Butterworth https://orcid.org/0000-0002-6915-9015 BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care (A.S.B.) NIHR Blood & Transplant Research Unit in Donor Health & Behaviour, Department of Public Health & Primary Care (A.S.B.) Victor Phillip Dahdaleh Heart & Lung Research Institute (A.S.B.) Health Data Research UK Cambridge (A.S.B.) University of Cambridge (A.S.B.). British Heart Foundation Cambridge Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, United Kingdom (A.S.B.). , Krishna G. AragamKrishna G. Aragam https://orcid.org/0000-0003-3223-9131 Cardiovascular Disease Initiative (K.G.A., P.T.E.), The Broad Institute of MIT and Harvard, Cambridge, MA. Program in Medical & Population Genetics (K.G.A.), The Broad Institute of MIT and Harvard, Cambridge, MA. Cardiovascular Research Center (K.G.A., P.T.E.), Massachusetts General Hospital, Boston. Center for Genomic Medicine (K.G.A.), Massachusetts General Hospital, Boston. , R. Thomas LumbersR. Thomas Lumbers https://orcid.org/0000-0002-9077-4741 British Heart Foundation Research Accelerator (R.T.L.), University College London. Institute of Health Informatics (R.T.L.), University College London. Health Data Rsrch UK London (R.T.L.), University College London. Bart's Heart Center, St. Bartholomew's Hospital, London, United Kingdom (R.T.L.). , Amit V. KheraAmit V. Khera https://orcid.org/0000-0001-6535-5839 Verve Therapeutics (A.V.K.). Division of Cardiology, Brigham and Women's Hospital (A.V.K.). , Steven A. LubitzSteven A. Lubitz https://orcid.org/0000-0002-9599-4866 Demoulas Center for Cardiac Arrhythmias (S.A.L., P.T.E.), Massachusetts General Hospital, Boston. , Patrick T. EllinorPatrick T. Ellinor https://orcid.org/0000-0002-2067-0533 Cardiovascular Disease Initiative (K.G.A., P.T.E.), The Broad Institute of MIT and Harvard, Cambridge, MA. Cardiovascular Research Center (K.G.A., P.T.E.), Massachusetts General Hospital, Boston. Demoulas Center for Cardiac Arrhythmias (S.A.L., P.T.E.), Massachusetts General Hospital, Boston. , Kyle J. GaultonKyle J. Gaulton Department of Pediatrics, University of California San Diego, La Jolla (P.K., Y.S., K.J.G.). , Jason FlannickJason Flannick Correspondence to: Jason Flannick, PhD, Department of Pediatrics, Operations & Development Boston Children's Hospital, Diabetes Research and Knowledge Portals, 300 Longwood Ave, Boston, MA 02115, Email E-mail Address: [email protected] https://orcid.org/0000-0002-3618-795X Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. Department of Pediatrics, Boston Children's Hospital (J.F.). Department of Pediatrics, Harvard Medical School, Boston, MA (J.F.). and Noël P. BurttNoël P. Burtt Noël P. Burtt, BS, Broad Institute of MIT and Harvard, Cambridge, MA 02132, Email E-mail Address: [email protected] Programs in Metabolism and Medical and Population Genetics (M.C.C., M.B., M.D., Q.H., D.J., R.K., A.M., T.N., O.R., P.S., J.F., N.P.B.), The Broad Institute of MIT and Harvard, Cambridge, MA. Originally published10 Oct 2023https://doi.org/10.1161/CIRCGEN.123.004181Circulation: Genomic and Precision Medicine. 2023;16FootnotesFor Sources of Funding and Disclosures, see page 585 and 586.Correspondence to: Jason Flannick, PhD, Department of Pediatrics, Operations & Development Boston Children's Hospital, Diabetes Research and Knowledge Portals, 300 Longwood Ave, Boston, MA 02115, Email jason.flannick@childrens.harvard.eduNoël P. Burtt, BS, Broad Institute of MIT and Harvard, Cambridge, MA 02132, Email burtt@broadinstitute.orgReferences1. McClellan M, Brown N, Califf RM, Warner JJ. Call to action: urgent challenges in cardiovascular disease: a presidential advisory from the American heart association.Circulation. 2019; 139:e44–e54. doi: 10.1161/CIR.0000000000000652LinkGoogle Scholar2. Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, et al. The Type 2 diabetes knowledge portal: an open access genetic resource dedicated to type 2 diabetes and related traits.Cell Metab. 2023; 35:695–710.E6. doi: 10.1016/j.cmet.2023.03.001CrossrefMedlineGoogle Scholar3. Crawford KM, Gallego-Fabrega C, Kourkoulis C, Miyares L, Marini S, Flannick J, Burtt NP, von Grotthuss M, Alexander B, Costanzo MC, et al. Cerebrovascular disease knowledge portal: an open-access data resource to accelerate genomic discoveries in stroke.Stroke. 2018; 49:470–475. doi: 10.1161/STROKEAHA.117.018922LinkGoogle Scholar4. Dornbos P, Singh P, Jang D, Mahajan A, Biddinger SB, Rotter JI, McCarthy MI, Flannick J. Evaluating human genetic support for hypothesized metabolic disease genes.Cell Metab. 2022; 34:661–666. doi: 10.1016/j.cmet.2022.03.011CrossrefMedlineGoogle Scholar5. Khomtchouk BB, Nelson CS, Vand KA, Palmisano S, Grossman RL. HeartBioPortal20: new developments and updates for genetic ancestry and cardiometabolic quantitative traits in diverse human populations.Database (Oxford). 2020; 2020:baaa115. doi: 10.1093/database/baaa115CrossrefMedlineGoogle Scholar6. de Leeuw CA, Mooij JM, Heskes T, Posthuma D. MAGMA: generalized gene-set analysis of GWAS data.PLoS Comput Biol. 2015; 11:e1004219. doi: 10.1371/journal.pcbi.1004219CrossrefMedlineGoogle Scholar7. Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, et al. Partitioning heritability by functional annotation using genome-wide association summary statistics.Nat Genet. 2015; 47:1228–1235. doi: 10.1038/ng.3404CrossrefMedlineGoogle Scholar8. Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, Weeks EM, Wang M, Hindy G, Zhou W, et al. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.Nat Genet. 2022; 54:1803–1815. doi: 10.1038/s41588-022-01233-6CrossrefMedlineGoogle Scholar9. Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, et al. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.Am J Hum Genet. 2022; 109:1366–1387. doi: 10.1016/j.ajhg.2022.06.012CrossrefMedlineGoogle 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 December 2023Vol 16, Issue 6 Advertisement Article Information Metrics © 2023 American Heart Association, Inc.https://doi.org/10.1161/CIRCGEN.123.004181PMID: 37814896 Originally publishedOctober 10, 2023 Keywordsbiomarkerscardiovascular diseasesdatabaseepigenomicsmyocardial infarctionphenotypePDF download Advertisement Subjects Big Data and Data Standards Computational Biology Coronary Circulation Genetics Translational Studies

Referência(s)