Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes
| Submitting Author |
Lubitz, Steven
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|---|---|
| Submitting Author's Email | |
| Authors |
Valerie N. Morrill1,2,*, Jennifer L. Halford1,3 ,*, Seung Hoan Choi1, Sean J. Jurgens1,4, Giorgio Melloni5, Nicholas A. Marston5, Lu-Chen Weng1,2, Victor Nauffal1, Amelia W. Hall1,2 , Sophia Gunn6, Christina A. Austin-Tse7,8,9, James P. Pirruccello2, Shaan Khurshid1,2,10, Heidi L. Rehm1,8,9, Emelia J. Benjamin11,12,13, Eric Boerwinkle14, Jennifer A. Brody15, Adolfo Correa16, Brandon K. Fornwalt17,18,19, Namrata Gupta1, Christopher M. Haggerty17,18, Stephanie Harris2, Susan R. Heckbert15,20, Chaz Hong21, Charles Kooperberg22, Henry J. Lin23, Ruth J. F. Loos24,25, Braxton D. Mitchell21,26, Alanna C. Morrison27, Wendy Post28, Bruce M. Psaty15,20,29, Susan Redline30, Kenneth M Rice31, Stephen S. Rich32, Jerome I. Rotter23, Peter F. Schnatz33, Elsayed Z. Soliman34, Nona Sotoodehnia15,35, Eugene K. Wong2,9, Marc S. Sabatine5, Christian T. Ruff5, Kathryn L. Lunetta6, Patrick T. Ellinor1,2,10,†, Steven A. Lubitz1,2,10,†
*Contributed Equally †Jointly Supervised 1. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. 2. Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA. USA. 3. Department of Medicine, Massachusetts General Hospital, Boston, MA. 4. Department of Experimental Cardiology, Amsterdam UMC, Amsterdam, NL. 5. TIMI Study Group, Division of Cardiovascular Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115. 6. Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA. 7. Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA. 8. Harvard Medical School, Boston, MA. 9. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. 10. Cardiac Arrhythmia Service, Massachusetts General Hospital, Boston, MA, USA. 11. NHLBI and Boston University’s Framingham Heart Study, Framingham, MA, USA. 12. Department of Medicine, Boston University School of Medicine, Boston, MA, USA. 13. Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA. 14. Human Genetics Center, University of Texas Health Science Center, Houston, TX, USA. 15. Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA. 16. Departments of Medicine, Pediatrics and Population Health Science, University of Mississippi Medical Center, Jackson, MS, USA. 17. Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA. 18. Heart Institute, Geisinger, Danville, PA, USA. 19. Department of Radiology, Geisinger, Danville, PA, USA. 20. Department of Epidemiology, University of Washington, Seattle, Washington, USA. 21. University of Maryland School of Medicine, Baltimore, Maryland, USA. 22. Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. 23. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA USA. 24. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA. 25. The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA. 26. Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, USA. 27. Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA. 28. Division of Cardiology, Johns Hopkins Medicine, Baltimore MD. 29. Department of Health Services, University of Washington, Seattle, Washington, USA. 30. Departments of Medicine, Brigham and Women’s Hospital and Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. 31. Department of Biostatistics, University of Washington, Seattle, WA, USA. 32. Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA. 33. Department of ObGyn, The Reading Hospital of Tower Health, Reading, PA, United States. 34. Epidemiological Cardiology Research Center, Wake Forest School of Medicine, Winston Salem, NC, USA. 35. Division of Cardiology, Department of Epidemiology, Seattle, WA, USA. |
| Journal name for most current submission |
Nat Commun.
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| Associated TOPMed paper proposal | |
| This manuscript has been approved by the original paper proposal's Working Group(s) or is "single PI" |
This manuscript has been approved by the original paper proposal's Working Group(s) or is "single PI"
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| Acknowledgments |
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Yes
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Yes
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| Parent Study: Consent Group | Review Status |
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| AFLMU:HMB-IRB-PUB-COL-NPU-MDS | Request cancelled by original requester |
| ARIC:DS-CVD-IRB | Approved automatically after 2 weeks |
| ARIC:HMB-IRB | Approved automatically after 2 weeks |
| Amish:HMB-IRB-MDS | Approved |
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| CHS:DS-CVD-NPU-MDS | Approved |
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| JHS:DS-FDO-IRB-NPU | Approved automatically after 2 weeks |
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| JHS:HMB-IRB-NPU | Approved automatically after 2 weeks |
| JHU_AF:HMB-NPU-MDS | Request cancelled by original requester |
| MESA:HMB | Approved |
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