المؤلفون: Nauffal V; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Klarqvist MDR; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hill MC; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Pace DF; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Di Achille P; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Choi SH; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rämö JT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pirruccello JP; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.; Division of Cardiology, University of California, San Francisco, San Francisco, CA, USA., Singh P; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kany S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cardiology, University Heart and Vascular Center Hamburg-Eppendorf, Hamburg, Germany., Hou C; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ng K; Center for Computational Health, IBM Research, Cambridge, MA, USA., Philippakis AA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Eric and Wendy Schmidt Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Batra P; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lubitz SA; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ellinor@mgh.harvard.edu.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.

المصدر: Nature medicine [Nat Med] 2024 Jun; Vol. 30 (6), pp. 1749-1760. Date of Electronic Publication: 2024 May 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

مواضيع طبية MeSH: Fibrosis* , Genome-Wide Association Study* , Magnetic Resonance Imaging*, Humans ; Male ; Female ; Middle Aged ; Machine Learning ; Aged ; Pancreas/pathology ; Pancreas/diagnostic imaging ; Organ Specificity/genetics ; Kidney/pathology ; Liver/pathology ; Liver/metabolism ; Myocardium/pathology ; Myocardium/metabolism ; Adult

المؤلفون: Pirruccello JP; Division of Cardiology, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.; Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.; Cardiovascular Genetics Center, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu., Di Achille P; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Choi SH; Cardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA., Rämö JT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Khurshid S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Nekoui M; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Jurgens SJ; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, NL, Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, University of Amsterdam, Amsterdam, NL, Netherlands., Nauffal V; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA., Kany S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Cardiology, University Heart and Vascular Center Hamburg-Eppendorf, Hamburg, Germany., Ng K; IBM Research, Cambridge, MA, USA., Friedman SF; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Batra P; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lunetta KL; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Palotie A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA., Philippakis AA; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ho JE; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; CardioVascular Institute, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA., Lubitz SA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.

مؤلفون مشاركون: FinnGen

المصدر: Nature communications [Nat Commun] 2024 May 21; Vol. 15 (1), pp. 4304. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Atrial Fibrillation*/physiopathology , Atrial Fibrillation*/genetics , Atrial Fibrillation*/diagnostic imaging , Deep Learning* , Heart Atria*/diagnostic imaging , Heart Atria*/physiopathology , Heart Atria*/pathology , Genome-Wide Association Study*, Humans ; Male ; Female ; Middle Aged ; Aged ; Magnetic Resonance Imaging ; Mendelian Randomization Analysis ; Risk Factors ; Atrial Function, Left/physiology ; Stroke Volume ; Stroke ; United Kingdom/epidemiology ; Genetic Loci ; Genetic Predisposition to Disease

المؤلفون: Al'Khafaji AM; Broad Institute of MIT and Harvard, Cambridge, MA, USA. aalkhafa@broadinstitute.org., Smith JT; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella KV; Broad Institute of MIT and Harvard, Cambridge, MA, USA. kiran@broadinstitute.org., Babadi M; Broad Institute of MIT and Harvard, Cambridge, MA, USA. mehrtash@broadinstitute.org., Popic V; Broad Institute of MIT and Harvard, Cambridge, MA, USA. vpopic@broadinstitute.org., Sade-Feldman M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA., Gatzen M; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sarkizova S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Schwartz MA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA, USA., Blaum EM; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA., Day A; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Costello M; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bowers T; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gabriel S; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Banks E; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Boland GM; Division of Surgical Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Blainey PC; Broad Institute of MIT and Harvard, Cambridge, MA, USA. pblainey@broadinstitute.org.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA. pblainey@broadinstitute.org.; Koch Institute for Integrative Cancer Research at the Massachusetts Institute of Technology, Cambridge, MA, USA. pblainey@broadinstitute.org., Hacohen N; Broad Institute of MIT and Harvard, Cambridge, MA, USA. nhacohen@broadinstitute.org.; Department of Medicine, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA. nhacohen@broadinstitute.org.; Harvard Medical School, Boston, MA, USA. nhacohen@broadinstitute.org.; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Charlestown, MA, USA. nhacohen@broadinstitute.org.

المصدر: Nature biotechnology [Nat Biotechnol] 2024 Apr; Vol. 42 (4), pp. 582-586. Date of Electronic Publication: 2023 Jun 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE

مواضيع طبية MeSH: RNA Isoforms*/genetics , High-Throughput Nucleotide Sequencing*/methods, DNA, Complementary/genetics ; Protein Isoforms/genetics ; Sequence Analysis, RNA/methods ; Transcriptome ; Gene Expression Profiling/methods ; RNA/genetics

المؤلفون: Deflaux N; Verily Life Sciences, San Francisco, CA, USA., Selvaraj MS; Program in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Condon HR; Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Mayo K; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA., Haidermota S; Program in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA., Basford MA; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA., Lunt C; All of Us Research Program, National Institutes of Health, Bethesda, MD, USA., Philippakis AA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Roden DM; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Denny JC; All of Us Research Program, National Institutes of Health, Bethesda, MD, USA., Musick A; All of Us Research Program, National Institutes of Health, Bethesda, MD, USA., Collins R; Nuffield Department of Population Health, University of Oxford, Oxford, Oxfordshire, UK.; UK Biobank, Cheadle, Stockport, UK., Allen N; Nuffield Department of Population Health, University of Oxford, Oxford, Oxfordshire, UK.; UK Biobank, Cheadle, Stockport, UK., Effingham M; UK Biobank, Cheadle, Stockport, UK., Glazer D; Verily Life Sciences, San Francisco, CA, USA., Natarajan P; Program in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA., Bick AG; Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. alexander.bick@vumc.org.

المصدر: Nature communications [Nat Commun] 2023 Sep 05; Vol. 14 (1), pp. 5419. Date of Electronic Publication: 2023 Sep 05.

نوع المنشور: Meta-Analysis; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Population Health*, Humans ; Genomics ; Policy ; Lipids

المؤلفون: Fleming SJ; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA. sfleming@broadinstitute.org.; Precision Cardiology Laboratory (PCL), Broad Institute of MIT and Harvard, Cambridge, MA, USA. sfleming@broadinstitute.org., Chaffin MD; Precision Cardiology Laboratory (PCL), Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arduini A; Precision Cardiology Laboratory (PCL), Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bayer US, LLC, Cambridge, MA, USA., Akkad AD; Precision Cardiology Laboratory (PCL), Bayer US, LLC, Cambridge, MA, USA., Banks E; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Marioni JC; Wellcome Sanger Institute, Hinxton, Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK., Philippakis AA; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ellinor PT; Precision Cardiology Laboratory (PCL), Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Babadi M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mehrtash@broadinstitute.org.; Precision Cardiology Laboratory (PCL), Broad Institute of MIT and Harvard, Cambridge, MA, USA. mehrtash@broadinstitute.org.

المصدر: Nature methods [Nat Methods] 2023 Sep; Vol. 20 (9), pp. 1323-1335. Date of Electronic Publication: 2023 Aug 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101215604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1548-7105 (Electronic) Linking ISSN: 15487091 NLM ISO Abbreviation: Nat Methods Subsets: MEDLINE

مواضيع طبية MeSH: Software* , RNA, Small Nuclear*, Sequence Analysis, RNA/methods ; Single-Cell Analysis/methods ; Gene Expression Profiling/methods

المؤلفون: Mayo KR; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Basford MA; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Carroll RJ; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org., Dillon M; Verily Life Sciences, South San Francisco, California, USA., Fullen H; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Leung J; Verily Life Sciences, South San Francisco, California, USA., Master H; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Rura S; Verily Life Sciences, South San Francisco, California, USA., Sulieman L; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org., Kennedy N; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Banks E; Data Sciences Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Bernick D; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Gauchan A; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Lichtenstein L; Data Sciences Platform, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Mapes BM; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Marginean K; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Nyemba SL; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org., Ramirez A; The All of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA., Rotundo C; Vanderbilt University Medical Center Enterprise Cybersecurity, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Wolfe K; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Xia W; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org., Azuine RE; The All of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA., Cronin RM; Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA., Denny JC; The All of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA., Kho A; Department of Medicine and Institute for Augmented Intelligence in Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Lunt C; The All of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA., Malin B; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org., Natarajan K; Department of Biomedical Informatics, Columbia University, New York, NY, USA., Wilkins CH; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Xu H; Section of Biomedical Informatics and Data Science, School of Medicine, Yale University, New Haven, Connecticut, USA., Hripcsak G; Department of Biomedical Informatics, Columbia University, New York, NY, USA., Roden DM; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org.; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Philippakis AA; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Glazer D; Verily Life Sciences, South San Francisco, California, USA., Harris PA; Deparment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA; email: paul.a.harris@vumc.org.

المصدر: Annual review of biomedical data science [Annu Rev Biomed Data Sci] 2023 Aug 10; Vol. 6, pp. 443-464.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Annual Reviews Country of Publication: United States NLM ID: 101714020 Publication Model: Print Cited Medium: Internet ISSN: 2574-3414 (Electronic) Linking ISSN: 25743414 NLM ISO Abbreviation: Annu Rev Biomed Data Sci Subsets: MEDLINE

مواضيع طبية MeSH: Population Health* , Biomedical Research*, Humans ; Ecosystem ; Precision Medicine

المؤلفون: Kim J; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; Biomedical Research Center, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; KI for Health Science and Technology, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.; Center for Epidemic Preparedness, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr., Woo S; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea., de Gusmao CM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Postgraduate School of Medical Science, University of Campinas (UNICAMP), São Paulo, Brazil., Zhao B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Chin DH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., DiDonato RL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Nguyen MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Nakayama T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Hu CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Kuniholm A; Institutional Center for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Thornton JK; Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA., Riccardi O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Friedman DA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., El Achkar CM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Dash Z; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Cornelissen L; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Donado C; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Bush LW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Center for Bioethics, Harvard Medical School, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lentucci C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Park PJ; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Patterson A; Harvard Medical School, Boston, MA, USA.; Department of Pharmacy, Boston Children's Hospital, Boston, MA, USA., Philippakis AA; Eric and Wendy Schmidt Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Margus B; Ataxia Telangiectasia Children's Project, Coconut Creek, FL, USA., Berde CB; Harvard Medical School, Boston, MA, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. timothy.yu@childrens.harvard.edu.; Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

المصدر: Nature [Nature] 2023 Jul; Vol. 619 (7971), pp. 828-836. Date of Electronic Publication: 2023 Jul 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia Telangiectasia*/drug therapy , Ataxia Telangiectasia*/genetics , RNA Splicing*/drug effects , RNA Splicing*/genetics, Child ; Humans ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/pharmacology ; Oligonucleotides, Antisense/therapeutic use ; Prospective Studies ; Whole Genome Sequencing ; Introns ; Exons ; Precision Medicine ; Pilot Projects

المؤلفون: Hall JL; Data Science and Analytics, American Heart Association, Dallas, TX (J.L.H., S.H., N.G., L.S.)., Honeycutt S; Data Science and Analytics, American Heart Association, Dallas, TX (J.L.H., S.H., N.G., L.S.)., Gonzalez N; Data Science and Analytics, American Heart Association, Dallas, TX (J.L.H., S.H., N.G., L.S.)., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA (A.O.-D., A.A.P.)., Overby Taylor C; Johns Hopkins University, Baltimore, MD (C.O.T., M.C.S.)., Stevens L; Data Science and Analytics, American Heart Association, Dallas, TX (J.L.H., S.H., N.G., L.S.)., Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA (A.O.-D., A.A.P.)., Schatz MC; Johns Hopkins University, Baltimore, MD (C.O.T., M.C.S.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Jun; Vol. 16 (3), pp. 275-276. Date of Electronic Publication: 2023 Apr 04.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Data Science* , Genome*, United States ; Humans ; National Human Genome Research Institute (U.S.) ; Genomics ; Informatics

المؤلفون: Nauffal V; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Di Achille P; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Klarqvist MDR; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cunningham JW; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hill MC; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Pirruccello JP; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.; Division of Cardiology, University of California San Francisco, San Francisco, CA, USA., Weng LC; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Morrill VN; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Choi SH; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Khurshid S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA., Friedman SF; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Nekoui M; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Roselli C; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Ng K; Center for Computational Health, IBM Research, Cambridge, MA, USA., Philippakis AA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Eric and Wendy Schmidt Center, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Batra P; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ellinor@mgh.harvard.edu.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu., Lubitz SA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. slubitz@mgh.harvard.edu.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA. slubitz@mgh.harvard.edu.

المصدر: Nature genetics [Nat Genet] 2023 May; Vol. 55 (5), pp. 777-786. Date of Electronic Publication: 2023 Apr 20.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Cardiomyopathies*/genetics , Cardiomyopathies*/pathology, Humans ; Myocardium/pathology ; Heart ; Fibrosis

المؤلفون: Radhakrishnan A; Massachusetts Institute of Technology, Cambridge, USA., Friedman SF; Broad Institute of MIT and Harvard, Cambridge, USA., Khurshid S; Broad Institute of MIT and Harvard, Cambridge, USA.; Massachusetts General Hospital, Massachusetts, USA., Ng K; IBM T.J. Watson Research Center, New York, USA., Batra P; Broad Institute of MIT and Harvard, Cambridge, USA., Lubitz SA; Broad Institute of MIT and Harvard, Cambridge, USA. lubitz@broadinstitute.org.; Massachusetts General Hospital, Massachusetts, USA. lubitz@broadinstitute.org., Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, USA. aphilipp@broadinstitute.org., Uhler C; Massachusetts Institute of Technology, Cambridge, USA. cuhler@mit.edu.; Broad Institute of MIT and Harvard, Cambridge, USA. cuhler@mit.edu.

المصدر: Nature communications [Nat Commun] 2023 Apr 28; Vol. 14 (1), pp. 2436. Date of Electronic Publication: 2023 Apr 28.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Cardiovascular System*/diagnostic imaging, Heart/diagnostic imaging ; Electrocardiography ; Learning