Evidence map›Paper›PMID 38718880›Full record

ReviewBiological psychiatry2024

Dimensional Neuroimaging Endophenotypes: Neurobiological Representations of Disease Heterogeneity Through Machine Learning.

Junhao Wen, Mathilde Antoniades, Zhijian Yang, Gyujoon Hwang, Ioanna Skampardoni, Rongguang Wang, Christos Davatzikos

Abstract readReview
In one paragraph

Review in Biological psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 3 pooled it
–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

20 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  12. Artificial Intelligence Networks Combining Histopathology and Machine Learning Can Extract Axon Pathology in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Junhao WenLaboratory of AI and Biomedical Science, University of Southern California, Los Angeles, California. Electronic address: junhaowe@usc.edu.
Mathilde AntoniadesArtificial Intelligence in Biomedical Imaging Laboratory, Center for AI and Data Science for Integrated Diagnostics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Zhijian YangArtificial Intelligence in Biomedical Imaging Laboratory, Center for AI and Data Science for Integrated Diagnostics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Gyujoon HwangPsychiatry and Behavioral Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
Ioanna SkampardoniArtificial Intelligence in Biomedical Imaging Laboratory, Center for AI and Data Science for Integrated Diagnostics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Rongguang WangArtificial Intelligence in Biomedical Imaging Laboratory, Center for AI and Data Science for Integrated Diagnostics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Christos DavatzikosArtificial Intelligence in Biomedical Imaging Laboratory, Center for AI and Data Science for Integrated Diagnostics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: christos.davatzikos@pennmedicine.upenn.edu.

Funding

Machine Learning and Large-scale Imaging analytics for dimensional representations of brain trajectories in aging and preclinical Alzheimer's Disease: The brain aging chart and the iSTAGING consortiumRF1AG054409 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DAVATZIKOS, CHRISTOS · 2017 to 2023
$6.3M
Mapping Heterogeneity of Neuroanatomical Imaging Signatures of Psychosis via Pattern AnalysisR01MH112070 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI DAVATZIKOS, CHRISTOS · 2017 to 2020
$2.7M
NIA NIH HHS RF1 AG054409NIMH NIH HHS R01 MH112070
6 · The paper itself

Abstract

Machine learning has been increasingly used to obtain individualized neuroimaging signatures for disease diagnosis, prognosis, and response to treatment in neuropsychiatric and neurodegenerative disorders. Therefore, it has contributed to a better understanding of disease heterogeneity by identifying disease subtypes with different brain phenotypic measures. In this review, we first present a systematic literature overview of studies using machine learning and multimodal magnetic resonance imaging to unravel disease heterogeneity in various neuropsychiatric and neurodegenerative disorders, including Alzheimer's disease, schizophrenia, major depressive disorder, autism spectrum disorder, and multiple sclerosis, as well as their potential in a transdiagnostic framework, where neuroanatomical and neurobiological commonalities were assessed across diagnostic boundaries. Subsequently, we summarize relevant machine learning methodologies and their clinical interpretability. We discuss the potential clinical implications of the current findings and envision future research avenues. Finally, we discuss an emerging paradigm called dimensional neuroimaging endophenotypes. Dimensional neuroimaging endophenotypes dissects the neurobiological heterogeneity of neuropsychiatric and neurodegenerative disorders into low-dimensional yet informative, quantitative brain phenotypic representations, serving as robust intermediate phenotypes (i.e., endophenotypes), presumably reflecting the interplay of underlying genetic, lifestyle, and environmental processes associated with disease etiology.

Indexed as

BrainEndophenotypesMachine LearningNeuroimagingHumansMagnetic Resonance ImagingMental DisordersNeurodegenerative DiseasesDimensional neuroimaging endophenotypesDisease heterogeneityDisease subtypesMachine learningNeurodegenerative diseaseNeuropsychiatric disorder

Identifiers

PMID38718880
PMCPMC11374488

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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.