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Tytuł :
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Autorzy :
Peloso, GM
Nomura, A
Khera, AV
Chaffin, M
Won, H-H
Ardissino, D
Danesh, J
Schunkert, H
Wilson, JG
Samani, N
Erdmann, J
McPherson, R
Watkins, H
Saleheen, D
McCarthy, S
Teslovich, TM
Leader, JB
Kirchner, HL
Marrugat, J
Nohara, A
Kawashiri, M
Tada, H
Dewey, FE
Carey, DJ
Baras, A
Kathiresan, S
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Źródło :
12
Opis pliku :
Print
Tytuł :
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Autorzy :
Kosmicki JA; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Horowitz JE; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Banerjee N; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Lanche R; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Marcketta A; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Maxwell E; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Bai X; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Sun D; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Backman JD; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Sharma D; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Kury FSP; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Kang HM; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
O'Dushlaine C; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Yadav A; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Mansfield AJ; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Li AH; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Watanabe K; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Gurski L; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
McCarthy SE; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Locke AE; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Khalid S; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
O'Keeffe S; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Mbatchou J; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Chazara O; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Huang Y; Biogen, 300 Binney Street, Cambridge, MA 02142, USA.
Kvikstad E; Bristol Myers Squibb, Route 206 and Province Line Road, Princeton, NJ 08543, USA.
O'Neill A; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Nioi P; Alnylam Pharmaceuticals, 675 West Kendall Street, Cambridge, MA 02142, USA.
Parker MM; Alnylam Pharmaceuticals, 675 West Kendall Street, Cambridge, MA 02142, USA.
Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Runz H; Biogen, 300 Binney Street, Cambridge, MA 02142, USA.
Szustakowski JD; Bristol Myers Squibb, Route 206 and Province Line Road, Princeton, NJ 08543, USA.
Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.
Wong E; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Cordova-Palomera A; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Smith EN; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Szalma S; Takeda California, Inc., 9625 Towne Centre Drive, San Diego, CA 92121, USA.
Zheng X; AbbVie, Inc., 1 N. Waukegan Road, North Chicago, IL 60064, USA.
Esmaeeli S; AbbVie, Inc., 1 N. Waukegan Road, North Chicago, IL 60064, USA.
Davis JW; AbbVie, Inc., 1 N. Waukegan Road, North Chicago, IL 60064, USA.
Lai YP; Pfizer, Inc., 1 Portland Street, Cambridge, MA 02139, USA.
Chen X; Pfizer, Inc., 1 Portland Street, Cambridge, MA 02139, USA.
Justice AE; Geisinger, Danville, PA 17822, USA.
Leader JB; Geisinger, Danville, PA 17822, USA.
Mirshahi T; Geisinger, Danville, PA 17822, USA.
Carey DJ; Geisinger, Danville, PA 17822, USA.
Verma A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sirugo G; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ritchie MD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Povysil G; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
Kiryluk K; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA; Division of Nephrology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Pairo-Castineira E; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
Rawlik K; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK.
Pasko D; Genomics England, London EC1M 6BQ, UK.
Walker S; Genomics England, London EC1M 6BQ, UK.
Meynert A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
Kousathanas A; Genomics England, London EC1M 6BQ, UK.
Moutsianas L; Genomics England, London EC1M 6BQ, UK.
Tenesa A; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, Teviot Place, Edinburgh EH8 9AG, UK.
Caulfield M; Genomics England, London EC1M 6BQ, UK; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Scott R; Genomics England, London EC1M 6BQ, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Wilson JF; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, Teviot Place, Edinburgh EH8 9AG, UK.
Baillie JK; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK; Intensive Care Unit, Royal Infirmary of Edinburgh, 54 Little France Drive, Edinburgh EH16 5SA, UK.
Butler-Laporte G; Lady Davis Institute, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC H3A 0G4, Canada.
Nakanishi T; Lady Davis Institute, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada; Kyoto-McGill International Collaborative School in Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan.
Lathrop M; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada; Canadian Centre for Computational Genomics, McGill University, Montréal, QC H3A 0G4, Canada.
Richards JB; Lady Davis Institute, Jewish General Hospital, Montréal, QC H3T 1E2, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, QC H3A 0G4, Canada; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada; Department of Twins Research, King's College London, London WC2R 2LS, UK.
Jones M; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Balasubramanian S; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Salerno W; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Shuldiner AR; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Marchini J; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Overton JD; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Habegger L; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Cantor MN; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Reid JG; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Baras A; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Abecasis GR; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: .
Ferreira MAR; Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: .
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Corporate Authors :
Regeneron Genetics Center
UKB Exome Sequencing Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1350-1355. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Whole Exome Sequencing*
COVID-19/*diagnosis
COVID-19/*genetics
Exome/*genetics
Hospitalization/*statistics & numerical data
COVID-19/immunology ; COVID-19/therapy ; Female ; Humans ; Interferons/genetics ; Male ; Prognosis ; SARS-CoV-2 ; Sample Size
Czasopismo naukowe
Tytuł :
Deep-learning-assisted analysis of echocardiographic videos improves predictions of all-cause mortality.
Autorzy :
Ulloa Cerna AE; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.; Electrical and Computer Engineering Department, University of New Mexico, Albuquerque, NM, USA.
Jing L; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Good CW; Heart Institute, Geisinger, Danville, PA, USA.
vanMaanen DP; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Raghunath S; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Suever JD; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Nevius CD; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Wehner GJ; Department of Biomedical Engineering, University of Kentucky, Lexington, KY, USA.
Hartzel DN; Phenomic Analytics and Clinical Data Core, Geisinger, Danville, PA, USA.
Leader JB; Phenomic Analytics and Clinical Data Core, Geisinger, Danville, PA, USA.
Alsaid A; Heart Institute, Geisinger, Danville, PA, USA.
Patel AA; Department of Radiology, Geisinger, Danville, PA, USA.
Kirchner HL; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Pfeifer JM; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.; Heart and Vascular Center, Evangelical Hospital, Lewisburg, PA, USA.
Carry BJ; Heart Institute, Geisinger, Danville, PA, USA.
Pattichis MS; Electrical and Computer Engineering Department, University of New Mexico, Albuquerque, NM, USA.
Haggerty CM; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.; Heart Institute, Geisinger, Danville, PA, USA.
Fornwalt BK; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA. .; Heart Institute, Geisinger, Danville, PA, USA. .; Department of Radiology, Geisinger, Danville, PA, USA. .
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Źródło :
Nature biomedical engineering [Nat Biomed Eng] 2021 Jun; Vol. 5 (6), pp. 546-554. Date of Electronic Publication: 2021 Feb 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Deep Neural Networks Can Predict New-Onset Atrial Fibrillation From the 12-Lead ECG and Help Identify Those at Risk of Atrial Fibrillation-Related Stroke.
Autorzy :
Raghunath S; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
Pfeifer JM; Heart and Vascular Center, Evangelical Hospital, Lewisburg, PA (J.M.P.).
Ulloa-Cerna AE; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
Nemani A; Tempus Labs Inc, Chicago, IL (A.N., T.C., K.W.J., N.Z., A.H.).
Carbonati T; Tempus Labs Inc, Chicago, IL (A.N., T.C., K.W.J., N.Z., A.H.).
Jing L; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
vanMaanen DP; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
Hartzel DN; Phenomic Analytics and Clinical Data Core (D.N.H., B.F.L., D.B.R., J.B.L.), Geisinger, Danville, PA.
Ruhl JA; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
Lagerman BF; Phenomic Analytics and Clinical Data Core (D.N.H., B.F.L., D.B.R., J.B.L.), Geisinger, Danville, PA.
Rocha DB; Phenomic Analytics and Clinical Data Core (D.N.H., B.F.L., D.B.R., J.B.L.), Geisinger, Danville, PA.
Stoudt NJ; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
Schneider G; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.
Johnson KW; Tempus Labs Inc, Chicago, IL (A.N., T.C., K.W.J., N.Z., A.H.).
Zimmerman N; Tempus Labs Inc, Chicago, IL (A.N., T.C., K.W.J., N.Z., A.H.).
Leader JB; Phenomic Analytics and Clinical Data Core (D.N.H., B.F.L., D.B.R., J.B.L.), Geisinger, Danville, PA.
Kirchner HL; Department of Population Health Sciences (H.L.K.), Geisinger, Danville, PA.
Griessenauer CJ; Department of Vascular and Endovascular Neurosurgery (C.J.G.), Geisinger, Danville, PA.; Research Institute of Neurointervention, Paracelsus Medical University, Salzburg, Austria (C.J.G.).
Hafez A; Tempus Labs Inc, Chicago, IL (A.N., T.C., K.W.J., N.Z., A.H.).
Good CW; Heart Institute (C.W.G., B.K.F., C.M.H.), Geisinger, Danville, PA.; Heart and Vascular Institute at University of Pittsburgh Medical Center Hamot, Erie, PA (C.W.G.).
Fornwalt BK; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.; Heart Institute (C.W.G., B.K.F., C.M.H.), Geisinger, Danville, PA.; Department of Radiology (B.K.F.), Geisinger, Danville, PA.
Haggerty CM; Department of Translational Data Science and Informatics (S.R., A.E.U.-C., L.J., D.P.v.M, J.A.R., N.J.S., G.S., B.K.F., C.M.H.), Geisinger, Danville, PA.; Heart Institute (C.W.G., B.K.F., C.M.H.), Geisinger, Danville, PA.
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Źródło :
Circulation [Circulation] 2021 Mar 30; Vol. 143 (13), pp. 1287-1298. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Autorzy :
Kelly MA; Geisinger Medical Center, Danville, Pennsylvania, USA.
Leader JB; Geisinger Medical Center, Danville, Pennsylvania, USA.
Wain KE; Geisinger Medical Center, Danville, Pennsylvania, USA.
Bodian D; Geisinger Medical Center, Danville, Pennsylvania, USA.
Oetjens MT; Geisinger Medical Center, Danville, Pennsylvania, USA.
Ledbetter DH; Geisinger Medical Center, Danville, Pennsylvania, USA.
Martin CL; Geisinger Medical Center, Danville, Pennsylvania, USA.
Strande NT; Geisinger Medical Center, Danville, Pennsylvania, USA.
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Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Mar; Vol. 187 (1), pp. 83-94. Date of Electronic Publication: 2021 Feb 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Common genetic variants identify targets for COVID-19 and individuals at high risk of severe disease.
Autorzy :
Horowitz JE; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Kosmicki JA; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Damask A; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Sharma D; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Roberts GHL; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Justice AE; Geisinger, Danville, PA, 17822, USA.
Banerjee N; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Coignet MV; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Yadav A; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Leader JB; Geisinger, Danville, PA, 17822, USA.
Marcketta A; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Park DS; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Lanche R; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Maxwell E; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Knight SC; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Bai X; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Guturu H; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Sun D; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Baltzell A; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Kury FSP; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Backman JD; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Girshick AR; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
O'Dushlaine C; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
McCurdy SR; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Partha R; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Mansfield AJ; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Turissini DA; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Li AH; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Zhang M; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Mbatchou J; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Watanabe K; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Gurski L; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
McCarthy SE; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Kang HM; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Dobbyn L; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Stahl E; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Verma A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Sirugo G; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Ritchie MD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Jones M; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Balasubramanian S; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Siminovitch K; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Salerno WJ; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Shuldiner AR; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Mirshahi T; Geisinger, Danville, PA, 17822, USA.
Locke AE; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Marchini J; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Overton JD; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Carey DJ; Geisinger, Danville, PA, 17822, USA.
Habegger L; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Cantor MN; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Rand KA; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Hong EL; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Reid JG; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Ball CA; AncestryDNA, 1300 West Traverse Parkway, Lehi, UT 84043, USA.
Baras A; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Abecasis GR; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
Ferreira MA; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
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Corporate Authors :
Regeneron Genetics Center
Źródło :
MedRxiv : the preprint server for health sciences [medRxiv] 2021 Feb 19. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Preprint
Tytuł :
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.
Autorzy :
Oetjens MT; Geisinger, Danville, Pennsylvania, United States of America.
Luo JZ; Geisinger, Danville, Pennsylvania, United States of America.
Chang A; Geisinger, Danville, Pennsylvania, United States of America.
Leader JB; Geisinger, Danville, Pennsylvania, United States of America.
Hartzel DN; Geisinger, Danville, Pennsylvania, United States of America.
Moore BS; Geisinger, Danville, Pennsylvania, United States of America.
Strande NT; Geisinger, Danville, Pennsylvania, United States of America.
Kirchner HL; Geisinger, Danville, Pennsylvania, United States of America.
Ledbetter DH; Geisinger, Danville, Pennsylvania, United States of America.
Justice AE; Geisinger, Danville, Pennsylvania, United States of America.
Carey DJ; Geisinger, Danville, Pennsylvania, United States of America.
Mirshahi T; Geisinger, Danville, Pennsylvania, United States of America.
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Źródło :
PloS one [PLoS One] 2020 Nov 12; Vol. 15 (11), pp. e0242182. Date of Electronic Publication: 2020 Nov 12 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Coronavirus Infections/*epidemiology
Hospitalization/*statistics & numerical data
Kidney Diseases/*epidemiology
Pneumonia, Viral/*epidemiology
Adult ; Aged ; Aged, 80 and over ; Betacoronavirus ; COVID-19 ; Electronic Health Records ; Female ; Humans ; Kidney Failure, Chronic/epidemiology ; Male ; Middle Aged ; Pandemics ; Pennsylvania/epidemiology ; Renal Dialysis ; Renal Insufficiency, Chronic/epidemiology ; Retrospective Studies ; Risk Factors ; SARS-CoV-2
Czasopismo naukowe
Tytuł :
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Autorzy :
Van Hout CV; Regeneron Genetics Center, Tarrytown, NY, USA. .
Tachmazidou I; GlaxoSmithKline, Stevenage, UK.; AstraZeneca, Cambridge, UK.
Backman JD; Regeneron Genetics Center, Tarrytown, NY, USA.
Hoffman JD; GlaxoSmithKline, Collegeville, PA, USA.; Foresite Labs, Cambridge, MA, USA.
Liu D; Regeneron Genetics Center, Tarrytown, NY, USA.
Pandey AK; GlaxoSmithKline, Collegeville, PA, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY, USA.
Khalid S; Regeneron Genetics Center, Tarrytown, NY, USA.
Ye B; Regeneron Genetics Center, Tarrytown, NY, USA.
Banerjee N; Regeneron Genetics Center, Tarrytown, NY, USA.
Li AH; Regeneron Genetics Center, Tarrytown, NY, USA.
O'Dushlaine C; Regeneron Genetics Center, Tarrytown, NY, USA.
Marcketta A; Regeneron Genetics Center, Tarrytown, NY, USA.
Staples J; Regeneron Genetics Center, Tarrytown, NY, USA.
Schurmann C; Regeneron Genetics Center, Tarrytown, NY, USA.; Digital Health Center, Hasso Plattner Institute, University of Potsdam, Potsdam, Germany.; Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hawes A; Regeneron Genetics Center, Tarrytown, NY, USA.
Maxwell E; Regeneron Genetics Center, Tarrytown, NY, USA.
Barnard L; Regeneron Genetics Center, Tarrytown, NY, USA.
Lopez A; Regeneron Genetics Center, Tarrytown, NY, USA.
Penn J; Regeneron Genetics Center, Tarrytown, NY, USA.; DNANexus, Mountain View, CA, USA.
Habegger L; Regeneron Genetics Center, Tarrytown, NY, USA.
Blumenfeld AL; Regeneron Genetics Center, Tarrytown, NY, USA.
Bai X; Regeneron Genetics Center, Tarrytown, NY, USA.
O'Keeffe S; Regeneron Genetics Center, Tarrytown, NY, USA.
Yadav A; Regeneron Genetics Center, Tarrytown, NY, USA.
Praveen K; Regeneron Genetics Center, Tarrytown, NY, USA.
Jones M; Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Salerno WJ; Regeneron Genetics Center, Tarrytown, NY, USA.
Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Surakka I; University of Michigan, Ann Arbor, MI, USA.
Willer CJ; University of Michigan, Ann Arbor, MI, USA.
Hveem K; Norwegian University of Science and Technology, Trondheim, Norway.
Leader JB; Geisinger, Dannville, PA, USA.
Carey DJ; Geisinger, Dannville, PA, USA.
Ledbetter DH; Geisinger, Dannville, PA, USA.
Cardon L; GlaxoSmithKline, Stevenage, UK.
Yancopoulos GD; Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Economides A; Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Coppola G; Regeneron Genetics Center, Tarrytown, NY, USA.
Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY, USA.
Balasubramanian S; Regeneron Genetics Center, Tarrytown, NY, USA.
Cantor M; Regeneron Genetics Center, Tarrytown, NY, USA.
Nelson MR; GlaxoSmithKline, Collegeville, PA, USA.; Deerfield, New York, NY, USA.
Whittaker J; GlaxoSmithKline, Stevenage, UK.
Reid JG; Regeneron Genetics Center, Tarrytown, NY, USA.
Marchini J; Regeneron Genetics Center, Tarrytown, NY, USA.
Overton JD; Regeneron Genetics Center, Tarrytown, NY, USA.
Scott RA; GlaxoSmithKline, Stevenage, UK. .
Abecasis GR; Regeneron Genetics Center, Tarrytown, NY, USA.
Yerges-Armstrong L; GlaxoSmithKline, Collegeville, PA, USA. .
Baras A; Regeneron Genetics Center, Tarrytown, NY, USA. .
Pokaż więcej
Corporate Authors :
Geisinger-Regeneron DiscovEHR Collaboration
Regeneron Genetics Center
Źródło :
Nature [Nature] 2020 Oct; Vol. 586 (7831), pp. 749-756. Date of Electronic Publication: 2020 Oct 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Genetic*
Phenotype*
Whole Exome Sequencing*
Exome/*genetics
Loss of Function Mutation/*genetics
Aged ; Bone Density/genetics ; Collagen Type VI/genetics ; Demography ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genotype ; Humans ; Ion Channels/genetics ; Male ; Middle Aged ; Neoplasms/genetics ; Penetrance ; Peptide Fragments/genetics ; United Kingdom ; Varicose Veins/genetics ; ras GTPase-Activating Proteins/genetics
Czasopismo naukowe
Tytuł :
A Machine Learning Approach to Management of Heart Failure Populations.
Autorzy :
Jing L; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania.
Ulloa Cerna AE; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania.
Good CW; Heart Institute, Geisinger, Danville, Pennsylvania.
Sauers NM; Center for Pharmacy Innovation and Outcomes, Geisinger, Danville, Pennsylvania.
Schneider G; Department of Medicine, Geisinger, Danville, Pennsylvania.
Hartzel DN; Phenomic Analytics and Clinical Data Core, Geisinger, Danville, Pennsylvania.
Leader JB; Phenomic Analytics and Clinical Data Core, Geisinger, Danville, Pennsylvania.
Kirchner HL; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania.
Hu Y; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania.
Riviello DM; Steele Institute for Health Innovation, Geisinger, Danville, Pennsylvania.
Stough JV; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania; Department of Computer Science, Bucknell University, Lewisburg, Pennsylvania.
Gazes S; Center for Pharmacy Innovation and Outcomes, Geisinger, Danville, Pennsylvania.
Haggerty A; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania.
Raghunath S; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania.
Carry BJ; Heart Institute, Geisinger, Danville, Pennsylvania.
Haggerty CM; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania; Heart Institute, Geisinger, Danville, Pennsylvania.
Fornwalt BK; Department of Translational Data Science and Informatics, Geisinger, Danville, Pennsylvania; Heart Institute, Geisinger, Danville, Pennsylvania; Department of Radiology, Geisinger, Danville, Pennsylvania. Electronic address: .
Pokaż więcej
Źródło :
JACC. Heart failure [JACC Heart Fail] 2020 Jul; Vol. 8 (7), pp. 578-587. Date of Electronic Publication: 2020 May 06.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Management*
Machine Learning*
Heart Failure/*therapy
Population Surveillance/*methods
Risk Assessment/*methods
Aged ; Aged, 80 and over ; Female ; Heart Failure/epidemiology ; Humans ; Male ; Middle Aged ; Morbidity/trends ; ROC Curve ; Retrospective Studies ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Prediction of mortality from 12-lead electrocardiogram voltage data using a deep neural network.
Autorzy :
Raghunath S; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Ulloa Cerna AE; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Jing L; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
vanMaanen DP; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.
Stough J; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.; Department of Computer Science, Bucknell University, Lewisburg, PA, USA.
Hartzel DN; Phenomic Analytics and Clinical Data Core, Geisinger, Danville, PA, USA.
Leader JB; Phenomic Analytics and Clinical Data Core, Geisinger, Danville, PA, USA.
Kirchner HL; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Stumpe MC; Tempus Labs, Inc., Chicago, IL, USA.
Hafez A; Tempus Labs, Inc., Chicago, IL, USA.
Nemani A; Tempus Labs, Inc., Chicago, IL, USA.
Carbonati T; Tempus Labs, Inc., Chicago, IL, USA.
Johnson KW; Tempus Labs, Inc., Chicago, IL, USA.
Young K; Department of Internal Medicine, Geisinger, Danville, PA, USA.
Good CW; Heart Institute, Geisinger, Danville, PA, USA.
Pfeifer JM; Heart and Vascular Center, Evangelical Hospital, Lewisburg, PA, USA.
Patel AA; Department of Radiology, Geisinger, Danville, PA, USA.
Delisle BP; Department of Physiology and Cardiovascular Research Center, University of Kentucky, Lexington, KY, USA.
Alsaid A; Heart Institute, Geisinger, Danville, PA, USA.
Beer D; Heart Institute, Geisinger, Danville, PA, USA.
Haggerty CM; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.; Heart Institute, Geisinger, Danville, PA, USA.
Fornwalt BK; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA. .; Heart Institute, Geisinger, Danville, PA, USA. .; Department of Radiology, Geisinger, Danville, PA, USA. .
Pokaż więcej
Źródło :
Nature medicine [Nat Med] 2020 Jun; Vol. 26 (6), pp. 886-891. Date of Electronic Publication: 2020 May 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Deep Learning*
Electrocardiography*
Mortality*
Risk Assessment*
Adult ; Aged ; Aged, 80 and over ; Algorithms ; Area Under Curve ; Cardiologists ; Cause of Death ; Female ; Humans ; Male ; Middle Aged ; Neural Networks, Computer ; Prognosis ; Proportional Hazards Models ; ROC Curve ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Routinely reported ejection fraction and mortality in clinical practice: where does the nadir of risk lie?
Autorzy :
Wehner GJ; Department of Biomedical Engineering, University of Kentucky, Lexington, KY, USA.
Jing L; Department of Imaging Science and Innovation, Geisinger, Danville, PA, USA.; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
Haggerty CM; Department of Imaging Science and Innovation, Geisinger, Danville, PA, USA.; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
Suever JD; Department of Imaging Science and Innovation, Geisinger, Danville, PA, USA.; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
Leader JB; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
Hartzel DN; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
Kirchner HL; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
Manus JNA; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.
James N; Department of Cardiology, Waitemata District Health Board, Auckland, New Zealand.
Ayar Z; Clinical Informatics Service, Waitemata District Health Board, Auckland, New Zealand.
Gladding P; Department of Cardiology, Waitemata District Health Board, Auckland, New Zealand.
Good CW; Heart Institute, Geisinger, Danville, PA, USA.
Cleland JGF; Robertson Centre for Biostatistics and Clinical Trials, University of Glasgow and National Heart & Lung Institute, Imperial College London, London, UK.
Fornwalt BK; Department of Imaging Science and Innovation, Geisinger, Danville, PA, USA.; Biomedical and Translational Informatics Institute, Geisinger, Danville, PA, USA.; Heart Institute, Geisinger, Danville, PA, USA.; Department of Radiology, Geisinger, 100 North Academy Avenue, Danville 17822-4400, PA, USA.
Pokaż więcej
Źródło :
European heart journal [Eur Heart J] 2020 Mar 21; Vol. 41 (12), pp. 1249-1257.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Heart Failure*
Ventricular Function, Left*
Female ; Humans ; Male ; New Zealand/epidemiology ; Prognosis ; Proportional Hazards Models ; Risk Factors ; Stroke Volume
Czasopismo naukowe
Tytuł :
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Autorzy :
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY .
Ge W; Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Staples J; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Van Hout C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Yadav A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Colonie R; Geisinger Health System, Danville, PA.
Leader JB; Geisinger Health System, Danville, PA.
Kirchner HL; Geisinger Health System, Danville, PA.
Murray MF; Geisinger Health System, Danville, PA.
Reid JG; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Carey DJ; Geisinger Health System, Danville, PA.
Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Shuldiner AR; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Gottesman O; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Gao S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Gromada J; Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Baras A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc., Tarrytown, NY.
Altarejos J
Pokaż więcej
Corporate Authors :
Geisinger-Regeneron DiscovEHR collaboration
Źródło :
Diabetes [Diabetes] 2020 Feb; Vol. 69 (2), pp. 249-258. Date of Electronic Publication: 2019 Dec 13.
Typ publikacji :
Journal Article
MeSH Terms :
Electronic Health Records*
Population Surveillance*
Lipodystrophy/*epidemiology
Lipodystrophy/*genetics
Adult ; Female ; Genetic Predisposition to Disease ; Genomics ; Humans ; Male ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.
Autorzy :
Carruth ED; Department of Imaging Science and Innovation (E.D.C., L.J., S.R., B.K.F., C.M.H.), Geisinger, Danville, PA.; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.
Young W; The Heart Institute (W.Y., D.B., A.A., B.K.F., C.M.H.), Geisinger, Danville, PA.
Beer D; The Heart Institute (W.Y., D.B., A.A., B.K.F., C.M.H.), Geisinger, Danville, PA.
James CA; Department of Medicine, Division of Cardiology, Johns Hopkins Medical Center, Baltimore, MD (C.A.J., H.C.).
Calkins H; Department of Medicine, Division of Cardiology, Johns Hopkins Medical Center, Baltimore, MD (C.A.J., H.C.).
Jing L; Department of Imaging Science and Innovation (E.D.C., L.J., S.R., B.K.F., C.M.H.), Geisinger, Danville, PA.; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.
Raghunath S; Department of Imaging Science and Innovation (E.D.C., L.J., S.R., B.K.F., C.M.H.), Geisinger, Danville, PA.; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.
Hartzel DN; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.
Leader JB; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.
Kirchner HL; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.
Smelser DT; Department of Molecular and Functional Genomics (D.T.S., D.J.C.), Geisinger, Danville, PA.
Carey DJ; Department of Molecular and Functional Genomics (D.T.S., D.J.C.), Geisinger, Danville, PA.
Kelly MA; Genomic Medicine Institute (M.A.K., A.C.S.), Geisinger, Danville, PA.
Sturm AC; Genomic Medicine Institute (M.A.K., A.C.S.), Geisinger, Danville, PA.
Alsaid A; The Heart Institute (W.Y., D.B., A.A., B.K.F., C.M.H.), Geisinger, Danville, PA.
Fornwalt BK; Department of Imaging Science and Innovation (E.D.C., L.J., S.R., B.K.F., C.M.H.), Geisinger, Danville, PA.; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.; The Heart Institute (W.Y., D.B., A.A., B.K.F., C.M.H.), Geisinger, Danville, PA.; Department of Radiology (B.K.F.), Geisinger, Danville, PA.
Haggerty CM; Department of Imaging Science and Innovation (E.D.C., L.J., S.R., B.K.F., C.M.H.), Geisinger, Danville, PA.; Biomedical and Translational Informatics Institute (E.D.C., L.J., S.R., D.N.H., J.B.L., H.L.K., B.K.F., C.M.H.), Geisinger, Danville, PA.; The Heart Institute (W.Y., D.B., A.A., B.K.F., C.M.H.), Geisinger, Danville, PA.
Pokaż więcej
Źródło :
Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 Nov; Vol. 12 (11), pp. e002579. Date of Electronic Publication: 2019 Oct 22.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Arrhythmogenic Right Ventricular Dysplasia/*genetics
Electronic Health Records/*statistics & numerical data
Adult ; Aged ; Desmocollins/genetics ; Desmoglein 2/genetics ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Phenotype ; Plakophilins/genetics ; Prospective Studies
Czasopismo naukowe
Tytuł :
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.
Autorzy :
Haggerty CM; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Damrauer SM; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).; Corporal Michael Crescenz VA Medical Center, Philadelphia, PA (S.M.D.).
Levin MG; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Birtwell D; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Carey DJ; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Golden AM; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Hartzel DN; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Hu Y; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Judy R; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Kelly MA; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Kember RL; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Lester Kirchner H; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Leader JB; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Liang L; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
McDermott-Roe C; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Babu A; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Morley M; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Nealy Z; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Person TN; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Pulenthiran A; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Small A; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Smelser DT; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Stahl RC; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Sturm AC; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Williams H; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Baras A; Regeneron Genetics Center, Tarrytown, NY (A. Baras, F.E.D.).
Margulies KB; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Cappola TP; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Dewey FE; Regeneron Genetics Center, Tarrytown, NY (A. Baras, F.E.D.).
Verma A; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Zhang X; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Correa A; Department of Medicine (A.C., M.E.H.), University of Mississippi Medical Center, Jackson.
Hall ME; Department of Medicine (A.C., M.E.H.), University of Mississippi Medical Center, Jackson.; Department of Physiology and Biophysics (M.E.H., J.G.W.), University of Mississippi Medical Center, Jackson.
Wilson JG; Department of Physiology and Biophysics (M.E.H., J.G.W.), University of Mississippi Medical Center, Jackson.
Ritchie MD; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Rader DJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Murray MF; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Fornwalt BK; Geisinger, Danville, PA (C.M.H., D.J.C., A.M.G., D.N.H., Y.H., M.A.K., H.L.K., J.B.L., Z.N., T.N.P., A.P., D.T.S., R.C.S., A.C.S., M.F.M., B.K.F.).
Arany Z; Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.M.D., M.G.L., D.B., R.J., R.L.K., L.L., C.M.-R., A. Babu, M.M., A.S., H.W., K.B.M., T.P.C., A.V., X.Z., M.D.R., D.J.R., Z.A.).
Pokaż więcej
Źródło :
Circulation [Circulation] 2019 Jul 02; Vol. 140 (1), pp. 42-54. Date of Electronic Publication: 2019 Jun 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Electronic Health Records*/trends
Connectin/*genetics
European Continental Ancestry Group/*genetics
Genetic Variation/*genetics
Genomics/*methods
Heart Diseases/*genetics
Adult ; Aged ; Cohort Studies ; Female ; Heart Diseases/diagnosis ; Humans ; Longitudinal Studies ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Autorzy :
Flannick J; Program in Metabolism, Broad Institute, Cambridge, MA, USA. .; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. .; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. .; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA. .
Mercader JM; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Fuchsberger C; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Institute for Biomedicine, Eurac Research, Bolzano, Italy.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Udler MS; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Mahajan A; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Wessel J; Department of Epidemiology, Fairbanks School of Public Health, Indiana University, Indianapolis, IN, USA.; Department of Medicine, School of Medicine, Indiana University, Indianapolis, IN, USA.; Diabetes Translational Research Center, Indiana University, Indianapolis, IN, USA.
Teslovich TM; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Caulkins L; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.
Koesterer R; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.
Barajas-Olmos F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Blackwell TW; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Boerwinkle E; 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, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Brody JA; Cardiovascular Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Centeno-Cruz F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Chen L; Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Chen S; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Contreras-Cubas C; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Córdova E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Correa A; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Cortes M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
DeFronzo RA; Department of Medicine, University of Texas Health Science Center, San Antonio, TX, USA.
Dolan L; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Drews KL; Biostatistics Center, George Washington University, Rockville, MD, USA.
Elliott A; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.; Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Floyd JS; Department of Medicine and Epidemiology, University of Washington, Seattle, WA, USA.
Gabriel S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Garay-Sevilla ME; Department of Medicine, The University of Chicago, Chicago, IL, USA.; Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
García-Ortiz H; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Gross M; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.
Han S; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.
Heard-Costa NL; Department of Neurology, Boston University School of Medicine, Boston, MA, USA.; National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.
Jackson AU; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Jørgensen ME; Steno Diabetes Center Copenhagen, Gentofte, Denmark.; National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.; Greenland Centre for Health Research, University of Greenland, Nuuk, Greenland.
Kang HM; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Kelsey M; Biostatistics Center, George Washington University, Rockville, MD, USA.
Kim BJ; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.
Koistinen HA; Department of Public Health Solutions, National Institute for Health and Welfare, Helsinki, Finland.; University of Helsinki and Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland.
Kuusisto J; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.; Department of Medicin, Kuopio University Hospital, Kuopio, Finland.
Leader JB; Geisinger Health System, Danville, PA, USA.
Linneberg A; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark.; Department of Clinical Experimental Research, Rigshospitalet, Copenhagen, Denmark.
Liu CT; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Liu J; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore.; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Lyssenko V; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Department of Clinical Science, University of Bergen, Bergen, Norway.
Manning AK; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Harvard University, Boston, MA, USA.
Marcketta A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Malacara-Hernandez JM; Department of Medicine, The University of Chicago, Chicago, IL, USA.; Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
Martínez-Hernández A; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Matsuo K; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Mayer-Davis E; University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
Mendoza-Caamal E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Mohlke KL; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.
Morrison AC; 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, TX, USA.
Ndungu A; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Ng MCY; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.
O'Dushlaine C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Payne AJ; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Pihoker C; Seattle Children's Hospital, Seattle, WA, USA.
Post WS; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Preuss M; Charles R. Bronfman Institute of Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA.
Psaty BM; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.; Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Services, University of Washington, Seattle, WA, USA.
Vasan RS; National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Preventive Medicine & Epidemiology, Medicine, Boston University School of Medicine, Boston, MA, USA.
Rayner NW; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.
Reiner AP; Department of Epidemiology, University of Washington, Seattle, WA, USA.
Revilla-Monsalve C; Instituto Mexicano del Seguro Social SXXI, Mexico City, Mexico.
Robertson NR; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Santoro N; Department of Pediatrics, Yale University, New Haven, CT, USA.
Schurmann C; Charles R. Bronfman Institute of Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA.
So WY; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.
Soberón X; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Stringham HM; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Tam CHT; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.
Thameem F; Health Science Center, Department of Biochemistry, Faculty of Medicine, Kuwait University, Safat, Kuwait.
Tomlinson B; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Torres JM; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Tracy RP; Department of Pathology and Laboratory Medicine, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.; Department of Biochemistry, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.
van Dam RM; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA.
Vujkovic M; Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA.
Wang S; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Welch RP; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Witte DR; Department of Public Health, Aarhus University, Aarhus, Denmark.; Danish Diabetes Academy, Odense, Denmark.
Wong TY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Duke-NUS Medical School Singapore, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore, Singapore.
Atzmon G; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Faculty of Natural Science, University of Haifa, Haifa, Israel.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.
Barzilai N; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.
Blangero J; Department of Human Genetics, University of Texas Rio Grande Valley, Edinburg, TX, USA.; South Texas Diabetes and Obesity Institute, Brownsville, TX, USA.
Bonnycastle LL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Bowden DW; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Chambers JC; Department of Epidemiology and Biostatistics, Imperial College London, London, UK.; Department of Cardiology, Ealing Hospital NHS Trust, Southall, UK.; Imperial College Healthcare NHS Trust, Imperial College London, London, UK.
Chan E; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore, Singapore.
Cheng CY; Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Duke-NUS Medical School, Singapore, Singapore.
Cho YS; Department of Biomedical Science, Hallym University, Chuncheon, South Korea.
Collins FS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
de Vries PS; 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, TX, USA.
Duggirala R; Department of Human Genetics, University of Texas Rio Grande Valley, Edinburg, TX, USA.; South Texas Diabetes and Obesity Institute, Brownsville, TX, USA.
Glaser B; Endocrinology and Metabolism Service, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Gonzalez C; Unidad de Diabetes y Riesgo Cardiovascular, Instituto Nacional de Salud Pública, Cuernavaca, Mexico.
Gonzalez ME; Centro de Estudios en Diabetes, Mexico City, Mexico.
Groop L; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.
Kooner JS; National Heart and Lung Institute, Cardiovascular Sciences, Imperial College London, London, UK.
Kwak SH; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea.
Laakso M; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.; Department of Medicin, Kuopio University Hospital, Kuopio, Finland.
Lehman DM; Department of Medicine, University of Texas Health Science Center, San Antonio, TX, USA.
Nilsson P; Department of Clinical Sciences, Medicine, Lund University, Malmö, Sweden.
Spector TD; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Tai ES; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.; Duke-NUS Medical School Singapore, Singapore, Singapore.
Tuomi T; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Centre, Helsinki, Finland.; Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland.
Tuomilehto J; Diabetes Prevention Unit, National Institute for Health and Welfare, Helsinki, Finland.; Center for Vascular Prevention, Danube University Krems, Krems, Austria.; Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.; Instituto de Investigacion Sanitaria del Hospital Universario LaPaz (IdiPAZ), University Hospital LaPaz, Autonomous University of Madrid, Madrid, Spain.
Wilson JG; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA.
Aguilar-Salinas CA; Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico.
Bottinger E; Charles R. Bronfman Institute of Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA.
Burke B; Biostatistics Center, George Washington University, Rockville, MD, USA.
Carey DJ; Geisinger Health System, Danville, PA, USA.
Chan JCN; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.
Dupuis J; National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Frossard P; Center for Non-Communicable Diseases, Karachi, Pakistan.
Heckbert SR; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.
Hwang MY; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.
Kim YJ; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.
Kirchner HL; Geisinger Health System, Danville, PA, USA.
Lee JY; Department of Business Data Convergence, Chungbuk National University, Gyeonggi-do, South Korea.
Lee J; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.
Loos RJF; Charles R. Bronfman Institute of Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA.; The Mindich Child Health and Development Insititute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ma RCW; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.
Morris AD; Clinical Research Centre, Centre for Molecular Medicine, Ninewells Hospital and Medical School, Dundee, UK.
O'Donnell CJ; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Section of Cardiology, Department of Medicine, VA Boston Healthcare, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA.; Intramural Administration Management Branch, National Heart Lung and Blood Institute, NIH, Framingham, MA, USA.
Palmer CNA; Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Medical Research Institute, Ninewells Hospital and Medical School, Dundee, UK.
Pankow J; Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN, USA.
Park KS; National Heart and Lung Institute, Cardiovascular Sciences, Imperial College London, London, UK.; Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, South Korea.; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Rasheed A; Center for Non-Communicable Diseases, Karachi, Pakistan.
Saleheen D; Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA.; Center for Non-Communicable Diseases, Karachi, Pakistan.
Sim X; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.
Small KS; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Teo YY; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.; Life Sciences Institute, National University of Singapore, Singapore, Singapore.; Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore.
Haiman C; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Hanis CL; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Henderson BE; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Orozco L; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Tusié-Luna T; Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico.; Instituto de Investigaciones Biomédicas, Departamento de Medicina Genómica y Toxicología, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Dewey FE; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Baras A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Gieger C; Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD e.V.), Neuherberg, Germany.
Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Deutsches Forschungszentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Munich Heart Alliance, Munich, Germany.
Strauch K; Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, Neuherberg, Germany.
Lange L; Department of Medicine, University of Colorado Denver, Aurora, CO, USA.
Grarup N; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Hansen T; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
Pedersen O; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Zeitler P; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Dabelea D; Department of Epidemiology, Colorado School of Public Health, Aurora, CO, USA.
Abecasis G; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Bell GI; Department of Medicine, The University of Chicago, Chicago, IL, USA.; Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
Cox NJ; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Seielstad M; Department of Laboratory Medicine & Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Blood Systems Research Institute, San Francisco, CA, USA.
Sladek R; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Division of Endocrinology and Metabolism, Department of Medicine, McGill University, Montreal, Quebec, Canada.; McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Meigs JB; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.
Rich SS; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA.
Rotter JI; Department of Pediatrics, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Department of Medicine, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.; Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.
Altshuler D; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.; Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.
Burtt NP; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.
Scott LJ; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Morris AP; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Department of Biostatistics, University of Liverpool, Liverpool, UK.
Florez JC; Program in Metabolism, Broad Institute, Cambridge, MA, USA.; Program in Medical & Population Genetics, Broad Institute, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
McCarthy MI; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.
Boehnke M; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Pokaż więcej
Corporate Authors :
Broad Genomics Platform
DiscovEHR Collaboration
CHARGE
LuCamp
ProDiGY
GoT2D
ESP
SIGMA-T2D
T2D-GENES
AMP-T2D-GENES
Źródło :
Nature [Nature] 2019 Jun; Vol. 570 (7759), pp. 71-76. Date of Electronic Publication: 2019 May 22.
Typ publikacji :
Journal Article
MeSH Terms :
Whole Exome Sequencing*
Diabetes Mellitus, Type 2/*genetics
Exome/*genetics
Animals ; Case-Control Studies ; Decision Support Techniques ; Female ; Gene Frequency ; Genome-Wide Association Study ; Humans ; Male ; Mice ; Mice, Knockout
Czasopismo naukowe

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