AIMC Topic: Endophenotypes
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Discovering the gene-brain-behavior link in autism via generative machine learning.
Science advances
Jun 12, 2024
Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first approach could transform understanding and treatment of autism. However, isolating the gene-brain-behavior relationship from confounding sources of variab...
Dimensional Neuroimaging Endophenotypes: Neurobiological Representations of Disease Heterogeneity Through Machine Learning.
Biological psychiatry
May 6, 2024
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 un...
Machine Learning for Precision Psychiatry: Opportunities and Challenges.
Biological psychiatry. Cognitive neuroscience and neuroimaging
Dec 6, 2017
The nature of mental illness remains a conundrum. Traditional disease categories are increasingly suspected to misrepresent the causes underlying mental disturbance. Yet psychiatrists and investigators now have an unprecedented opportunity to benefit...
Neurocognitive Graphs of First-Episode Schizophrenia and Major Depression Based on Cognitive Features.
Neuroscience bulletin
Nov 2, 2017
Neurocognitive deficits are frequently observed in patients with schizophrenia and major depressive disorder (MDD). The relations between cognitive features may be represented by neurocognitive graphs based on cognitive features, modeled as Gaussian ...
Juvenile Myoclonic Epilepsy Imaging Endophenotypes and Relationship With Cognition and Resting-State EEG.
Human brain mapping
May 1, 2025
Structural neuroimaging studies of patients with Juvenile Myoclonic Epilepsy (JME) typically present two findings: 1-volume reduction of subcortical gray matter structures, and 2-abnormalities of cortical thickness. The general trend has been to obse...
MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.
Briefings in bioinformatics
Mar 4, 2025
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of t...
Brief Report: Neuroimaging Endophenotypes of Social Robotic Applications in Autism Spectrum Disorder.
Journal of autism and developmental disorders
Jul 1, 2021
A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to s...
Machine learning approach to identify a resting-state functional connectivity pattern serving as an endophenotype of autism spectrum disorder.
Brain imaging and behavior
Dec 1, 2019
Endophenotype refers to a measurable and heritable component between genetics and diagnosis, and the same endophenotype is present in both individuals with a diagnosis and their unaffected siblings. Determination of the neural correlates of an endoph...
Multivariate Pattern Analysis of Genotype-Phenotype Relationships in Schizophrenia.
Schizophrenia bulletin
Aug 20, 2018
Genetic risk variants for schizophrenia have been linked to many related clinical and biological phenotypes with the hopes of delineating how individual variation across thousands of variants corresponds to the clinical and etiologic heterogeneity wi...
Impressions of Humanness for Android Robot may Represent an Endophenotype for Autism Spectrum Disorders.
Journal of autism and developmental disorders
Feb 1, 2018
Identification of meaningful endophenotypes may be critical to unraveling the etiology and pathophysiology of autism spectrum disorders (ASD). We investigated whether impressions of "humanness" for android robot might represent a candidate characteri...
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