Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature.

Journal: Circulation
PMID:

Abstract

BACKGROUND: The microvasculature, the smallest blood vessels in the body, has key roles in maintenance of organ health and tumorigenesis. The retinal fundus is a window for human in vivo noninvasive assessment of the microvasculature. Large-scale complementary machine learning-based assessment of the retinal vasculature with phenome-wide and genome-wide analyses may yield new insights into human health and disease.

Authors

  • Seyedeh Maryam Zekavat
    Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT (S.M.Z., J.M., R.A.A., L.D.P., J.C.W.).
  • Vineet K Raghu
    Department of Computer Science, University of Pittsburgh, Pittsburgh, PA, USA.
  • Mark Trinder
    Centre for Heart Lung Innovation, University of British Columbia, Vancouver, Canada (M.T.).
  • Yixuan Ye
    Computational Biology & Bioinformatics Program (S.M.Z., Y.Y., H.Z.), Yale University, New Haven, CT.
  • Satoshi Koyama
    Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.M.Z., V.K.R., M.T., S.K., M.C.H., Z.Y., A.P., S.U., P.T.E., P.N.).
  • Michael C Honigberg
    Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.M.Z., V.K.R., M.T., S.K., M.C.H., Z.Y., A.P., S.U., P.T.E., P.N.).
  • Zhi Yu
    ModiFace - A L'Oréal Group Company, Toronto, ON, Canada.
  • Akhil Pampana
    Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.M.Z., V.K.R., M.T., S.K., M.C.H., Z.Y., A.P., S.U., P.T.E., P.N.).
  • Sarah Urbut
    Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.M.Z., V.K.R., M.T., S.K., M.C.H., Z.Y., A.P., S.U., P.T.E., P.N.).
  • Sara Haidermota
    Cardiovascular Research Center (S.M.Z., V.K.R., M.C.H., S.U., S.H., P.T.E., P.N.), Massachusetts General Hospital, Harvard Medical School, Boston.
  • Declan P O'Regan
    MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
  • Hongyu Zhao
    SJTU-Yale Joint Center for Biostatistics, Shanghai Jiao Tong University, 800 Dong Chuan Road, Shanghai 200240, China; Department of Biostatistics, Yale University, New Heaven, USA.
  • Patrick T Ellinor
    Cardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Ayellet V Segrè
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston (A.V.S., T.E., J.L.W., N.Z.).
  • Tobias Elze
    Schepens Eye Research Institute, Harvard Medical School, Boston, Massachusetts; Complex Structures in Biology and Cognition, Max Planck Institute for Mathematics in the Sciences, Leipzig, Germany. Electronic address: tobias-elze@tobias-elze.de.
  • Janey L Wiggs
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston (A.V.S., T.E., J.L.W., N.Z.).
  • James Martone
    Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT (S.M.Z., J.M., R.A.A., L.D.P., J.C.W.).
  • Ron A Adelman
    Department of Ophthalmology and Visual Science, Yale School of Medicine, Yale University, New Haven, CT, USA.
  • Nazlee Zebardast
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston (A.V.S., T.E., J.L.W., N.Z.).
  • Lucian Del Priore
    Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT (S.M.Z., J.M., R.A.A., L.D.P., J.C.W.).
  • Jay C Wang
    Department of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, CT (S.M.Z., J.M., R.A.A., L.D.P., J.C.W.).
  • Pradeep Natarajan
    Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.M.Z., V.K.R., M.T., S.K., M.C.H., Z.Y., A.P., S.U., P.T.E., P.N.).