Artificial intelligence for dementia genetics and omics.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published Date:

Abstract

Genetics and omics studies of Alzheimer's disease and other dementia subtypes enhance our understanding of underlying mechanisms and pathways that can be targeted. We identified key remaining challenges: First, can we enhance genetic studies to address missing heritability? Can we identify reproducible omics signatures that differentiate between dementia subtypes? Can high-dimensional omics data identify improved biomarkers? How can genetics inform our understanding of causal status of dementia risk factors? And which biological processes are altered by dementia-related genetic variation? Artificial intelligence (AI) and machine learning approaches give us powerful new tools in helping us to tackle these challenges, and we review possible solutions and examples of best practice. However, their limitations also need to be considered, as well as the need for coordinated multidisciplinary research and diverse deeply phenotyped cohorts. Ultimately AI approaches improve our ability to interrogate genetics and omics data for precision dementia medicine. HIGHLIGHTS: We have identified five key challenges in dementia genetics and omics studies. AI can enable detection of undiscovered patterns in dementia genetics and omics data. Enhanced and more diverse genetics and omics datasets are still needed. Multidisciplinary collaborative efforts using AI can boost dementia research.

Authors

  • Conceicao Bettencourt
    Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Nathan Skene
    UK Dementia Research Institute, Imperial College London, London, UK.
  • Sara Bandres-Ciga
    Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Emma Anderson
    Department of Mental Health of Older People, Division of Psychiatry, University College London, London, UK.
  • Laura M Winchester
    Department of Psychiatry, University of Oxford, Oxford, UK.
  • Isabelle F Foote
    Institute for Behavioral Genetics, University of Colorado Boulder, Boulder, Colorado, USA.
  • Jeremy Schwartzentruber
    Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK.
  • Juan A Botia
    Departamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, Spain.
  • Mike Nalls
    Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Andrew Singleton
    Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
  • Brian M Schilder
    UK Dementia Research Institute, Imperial College London, London, UK.
  • Jack Humphrey
    Nash Family Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, USA.
  • Sarah J Marzi
    UK Dementia Research Institute, Imperial College London, London, UK.
  • Christina E Toomey
    Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Ahmad Al Kleifat
    Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Eric L Harshfield
    Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
  • Victoria Garfield
    MRC Unit for Lifelong Health and Ageing, Institute of Cardiovascular Science, University College London, London, UK.
  • Cynthia Sandor
    UK Dementia Research Institute. School of Medicine, Cardiff University, Cardiff, UK.
  • Samuel Keat
    UK Dementia Research Institute. School of Medicine, Cardiff University, Cardiff, UK.
  • Stefano Tamburin
    Neurology Section, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Carlo Sala Frigerio
    UK Dementia Research Institute, Queen Square Institute of Neurology, University College London, London, UK.
  • Ilianna Lourida
    University of Exeter Medical School, Exeter, UK.
  • Janice M Ranson
    University of Exeter Medical School, Exeter, United Kingdom.
  • David J Llewellyn
    University of Exeter Medical School, Exeter, United Kingdom.