Evidence map›Paper›PMID 37606627›Full record

ReviewAlzheimer's & dementia : the journal of the Alzheimer's Association2023

Artificial intelligence for dementia genetics and omics.

Conceicao Bettencourt, Nathan Skene, Sara Bandres-Ciga, Emma Anderson, Laura M Winchester, Isabelle F Foote, Jeremy Schwartzentruber, Juan A Botia, Mike Nalls, Andrew Singleton and 15 more

Abstract readReview
In one paragraph

Review in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Advancing global dementia research through equity and inclusion.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. LD-informed deep learning for Alzheimer's gene loci detection using WGS data.medRxiv : the preprint server for health sciences · 2024
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Review
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Conceicao BettencourtDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-9090-7690
Nathan SkeneUK Dementia Research Institute, Imperial College London, London, UK.
Sara Bandres-CigaCenter 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 AndersonDepartment of Mental Health of Older People, Division of Psychiatry, University College London, London, UK.
Laura M WinchesterDepartment of Psychiatry, University of Oxford, Oxford, UK.
Isabelle F FooteInstitute for Behavioral Genetics, University of Colorado Boulder, Boulder, Colorado, USA.
Jeremy SchwartzentruberOpen Targets, Cambridge, UK.
Juan A BotiaDepartamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, Spain.
Mike NallsCenter 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 SingletonCenter 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 SchilderUK Dementia Research Institute, Imperial College London, London, UK.
Jack HumphreyNash Family Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, USA.
Sarah J MarziUK Dementia Research Institute, Imperial College London, London, UK.
Christina E ToomeyQueen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.
Ahmad Al KleifatDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Eric L HarshfieldStroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Victoria GarfieldMRC Unit for Lifelong Health and Ageing, Institute of Cardiovascular Science, University College London, London, UK.
Cynthia SandorUK Dementia Research Institute. School of Medicine, Cardiff University, Cardiff, UK.
Samuel KeatUK Dementia Research Institute. School of Medicine, Cardiff University, Cardiff, UK.
Stefano TamburinDepartment of Neurosciences, Biomedicine and Movement Sciences, Neurology Section, University of Verona, Verona, Italy.
Carlo Sala FrigerioUK Dementia Research Institute, Queen Square Institute of Neurology, University College London, London, UK.
Ilianna LouridaUniversity of Exeter Medical School, Exeter, UK.
Deep Dementia Phenotyping (DEMON) Network
Janice M RansonUniversity of Exeter Medical School, Exeter, UK.
David J LlewellynUniversity of Exeter Medical School, Exeter, UK.

Funding

iPSC Neurodegenerative Diseasses InitiativeZIAAG000535 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2019 to 2025
$48.2M
Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Human Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI PETRUCELLI, LEONARD · 2021 to 2025
$8.2M
Identifying modifiable aspects of gene-by-environment interplay in later-life cognitive declineRF1AG055654 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI FAUL, JESSICA, GALAMA, TITUS JOHANNES · 2017 to 2018
$4.3M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Large-Scale Genomic Analysis of Aging-Related Cognitive Change Prior to Dementia OnsetRF1AG073593 · NIA · UNIVERSITY OF TEXAS AT AUSTIN · PI TUCKER-DROB, ELLIOT MAX · 2021 to 2021
$2.1M
MIDCAREER AWARD IN PATIENT ORIENTED RESEARCH ON AGINGK24AG000949 · NIA · YALE UNIVERSITY · PI INOUYE, SHARON K. · 1999 to 2009
$1.4M
Alzheimer's Society AS-PhD-19b-014Alzheimer's Society AS-RF-21-017British Heart Foundation SP/16/6/32726Diabetes UK 15/0005250Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000535Intramural NIH HHS ZIA AG000949Medical Research Council MR/T04327X/1Medical Research Council MR/X005674/1NIA NIH HHS K24 AG000949NIA NIH HHS RF1 AG055654NIA NIH HHS RF1 AG073593NIA NIH HHS RF1AG073593NINDS NIH HHS U54 NS123743
6 · The paper itself

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.

Indexed as

Alzheimer DiseaseArtificial IntelligenceHumansMachine LearningPhenotypePrecision Medicineartificial intelligence, biomarkerspathology, causality, dementia, disease pathways, etiology, genetics, machine learning, omics, risk factors

Identifiers

PMID37606627
PMCPMC10841325

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.