ArticleNature genetics2022
Deep learning enables genetic analysis of the human thoracic aorta.
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Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 8 of them syntheses that pooled it.
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124citing papers in PubMed, 8 pooled it
21.0field-weighted citation impact, top 1% of its field
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Who cites it
124 citing papers in PubMed, 8 syntheses or guidelines pooled it, 197 citations in OpenAlex.
- Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.Circulation · 2026Pooled it
- Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.Nature genetics · 2026Pooled it
- Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.PLoS genetics · 2025Pooled it
- Dissecting the Genetic Architecture of Intracranial Aneurysms.Circulation. Genomic and precision medicine · 2025Pooled it
- Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation.Nature communications · 2024Pooled it
- Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population.Diabetes & metabolism journal · 2023Pooled it
- Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.Nature communications · 2022Pooled it
- Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.Human molecular genetics · 2022Pooled it
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Integrative Observational and Genetic Evidence From the UK Biobank Supports Carotid Intima-Media Thickness as a Window Into Cardiac Remodeling.Journal of the American Heart Association · 2026Observational
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Hundreds of cardiac MRI traits derived using 3D diffusion autoencoders share a common genetic architecture.Nature communications · 2026Article
- Image feature embedding with a deep learning framework improves genome-wide association studies on dog endophenotypes.Science advances · 2026Article
- A Machine Learning Driven Approach to Quantifying Coronary Artery Tortuosity.JACC. Advances · 2026Article
- AI-driven radiomics in vascular disease: a narrative review of image analysis and clinical translation.Cardiovascular diagnosis and therapy · 2026Review
- Article
- Neuronal and glial networks interact with traumatic brain injury to modulate cognition in ABCD study.NPJ systems biology and applications · 2026Article
- Inferring genotype-phenotype maps using attention models.PNAS nexus · 2026Article
- REPLY: Mendelian Randomization Suggests a Causal Link Between Glycemic Traits and Thoracic Aortic Structures and Diseases.JACC. Basic to translational science · 2026Article
64 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 6 institutions in 2 countries.
James P PirruccelloDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6088-4037
Mark D ChaffinCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1234-5562
Elizabeth L ChouCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0997-6785
Stephen J FlemingPrecision Cardiology Laboratory, The Broad Institute & Bayer US LLC, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1885-4405
Honghuang LinFramingham Heart Study, Boston University and National Heart, Lung, and Blood Institute, Framingham, MA, USA.ORCID http://orcid.org/0000-0003-3043-3942
Mahan NekouiCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7466-4801
Shaan KhurshidDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
Samuel F FriedmanData Sciences Platform, Broad Institute, Cambridge, MA, USA.
Alexander G BickCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.
Alessandro ArduiniCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.
Lu-Chen WengCardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1475-4930
Seung Hoan ChoiCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2797-3190
Amer-Denis AkkadPrecision Cardiology Laboratory, The Broad Institute & Bayer US LLC, Cambridge, MA, USA.
Puneet BatraData Sciences Platform, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6822-0593
Nathan R TuckerMasonic Medical Research Institute, Utica, NY, USA.
Amelia W HallCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7915-0313
Carolina RoselliCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5267-6756
Emelia J BenjaminFramingham Heart Study, Boston University and National Heart, Lung, and Blood Institute, Framingham, MA, USA.ORCID http://orcid.org/0000-0003-4076-2336
Shamsudheen K VellarikkalCardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6384-2948
Rajat M GuptaDepartment of Medicine, Divisions of Cardiovascular Medicine and Genetics, Brigham and Women's Hospital, Boston, MA, USA.
Christian M StegmannPrecision Cardiology Laboratory, The Broad Institute & Bayer US LLC, Cambridge, MA, USA.
Dejan JuricHarvard Medical School, Boston, MA, USA.
James R StoneHarvard Medical School, Boston, MA, USA.
Ramachandran S VasanFramingham Heart Study, Boston University and National Heart, Lung, and Blood Institute, Framingham, MA, USA.ORCID http://orcid.org/0000-0001-7357-5970
Jennifer E HoDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.
Udo HoffmannDepartment of Radiology, Harvard Medical School, Boston, MA, USA.
Steven A LubitzDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9599-4866
Anthony A PhilippakisData Sciences Platform, Broad Institute, Cambridge, MA, USA.
Mark E LindsayDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6724-7938
Patrick T EllinorDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.ORCID http://orcid.org/0000-0002-2067-0533
Broad Institute · USHarvard University · USBoston University · USBrigham and Women's Hospital · USMasonic Medical Research Laboratory · USMassachusetts General Hospital · US
Funding
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MConProject-006U54HL120163 · NHLBI · AMERICAN HEART ASSOCIATION · PI BHATNAGAR, ARUNI, ROBERTSON, ROSE MARIE · 2018 to 2022
$18.8MMULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MGenomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3MAFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1MEicosanoid Profiles as Determinants of HFpEFR01HL140224 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI HO, JENNIFER E · 2018 to 2021
$3.1MUsing Electrocardiogram Genetics to Inform Arrhythmia RiskR01HL157635 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS, MIRSHAHI, TOORAJ · 2022 to 2025
$2.9MThe Association of Metabolic Disease and Pulmonary HypertensionR01HL134893 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI HO, JENNIFER E · 2017 to 2021
$2.9MFHS-NEXT - Framingham Novel EXam using TechnologyR01HL141434 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., MCMANUS, DAVID D. · 2019 to 2022
$2.5MMentoring in Arrhythmia ResearchK24HL105780 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2011 to 2020
$1.2MDefining the functional variation underlying atrial fibrillation riskK01HL140187 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI TUCKER, NATHAN R · 2018 to 2022
$858kDeep learning to enable the genetic analysis of aortaK08HL159346 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PIRRUCCELLO, JAMES · 2021 to 2025
$827kAmerican Heart Association-American Stroke Association 18SFRN34250007Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHLBI NIH HHS K01 HL140187NHLBI NIH HHS K08 HL159346NHLBI NIH HHS K24 HL105780NHLBI NIH HHS K24 HL153669NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL134893NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL140224NHLBI NIH HHS R01 HL141434NHLBI NIH HHS R01 HL157635NHLBI NIH HHS T32 HL007208NHLBI NIH HHS U54 HL120163
Abstract
Enlargement or aneurysm of the aorta predisposes to dissection, an important cause of sudden death. We trained a deep learning model to evaluate the dimensions of the ascending and descending thoracic aorta in 4.6 million cardiac magnetic resonance images from the UK Biobank. We then conducted genome-wide association studies in 39,688 individuals, identifying 82 loci associated with ascending and 47 with descending thoracic aortic diameter, of which 14 loci overlapped. Transcriptome-wide analyses, rare-variant burden tests and human aortic single nucleus RNA sequencing prioritized genes including SVIL, which was strongly associated with descending aortic diameter. A polygenic score for ascending aortic diameter was associated with thoracic aortic aneurysm in 385,621 UK Biobank participants (hazard ratio = 1.43 per s.d., confidence interval 1.32-1.54, P = 3.3 × 10
Indexed as
Deep LearningMagnetic Resonance ImagingAdultAgedAorta, ThoracicAortic AneurysmBiological Variation, PopulationFemaleGenome-Wide Association StudyHumansImage Processing, Computer-AssistedMaleMiddle AgedQuantitative Trait LociTranscriptome
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