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Justin Marotta

Alumni

Publications

Latent brain subtypes of chronotype reveal unique behavioral and health profiles across population cohorts
Julie Carrier
Kai-Florian Storch
Robin I. M. Dunbar
Chronotype is shaped by the complex interplay of endogenous and exogenous factors. This time-enduring trait ties into societal behaviors an… (voir plus)d is linked to psychiatric and metabolic conditions. Despite its multifaceted nature, prior research has treated chronotype as a monolithic trait across the population, risking overlooking substantial heterogeneity in neural and behavioral fingerprints. To uncover hidden subgroups, we develop a supervised pattern-learning framework integrating three complementary brain-imaging modalities with deep behavioral and health profiling from 27,030 UK Biobank participants. We identify five distinct, biologically valid chronotype subtypes. Each demonstrates unique patterns across brain, behavioral and health profiles. External validation in 10,550 US children from the ABCD Study cohort reveals reversed age distributions and replicates sex-associated brain-behavioral patterns, suggesting that potential divergences between chronotype traits observed throughout adulthood may begin to emerge early in life. These findings highlight underappreciated sources of population variation that echo the rhythm of people’s inner clock.
Latent brain subtypes of chronotype reveal unique behavioral and health profiles across population cohorts
Julie Carrier
Kai-Florian Storch
Robin I. M. Dunbar
Chronotype is shaped by the complex interplay of endogenous and exogenous factors. This time-enduring trait ties into societal behaviors an… (voir plus)d is linked to psychiatric and metabolic conditions. Despite its multifaceted nature, prior research has treated chronotype as a monolithic trait across the population, risking overlooking substantial heterogeneity in neural and behavioral fingerprints. To uncover hidden subgroups, we develop a supervised pattern-learning framework integrating three complementary brain-imaging modalities with deep behavioral and health profiling from 27,030 UK Biobank participants. We identify five distinct, biologically valid chronotype subtypes. Each demonstrates unique patterns across brain, behavioral and health profiles. External validation in 10,550 US children from the ABCD Study cohort reveals reversed age distributions and replicates sex-associated brain-behavioral patterns, suggesting that potential divergences between chronotype traits observed throughout adulthood may begin to emerge early in life. These findings highlight underappreciated sources of population variation that echo the rhythm of people’s inner clock.
Deep learning reveals that multidimensional social status drives population variation in 11,875 US participant cohort
As an increasing realization, many behavioral relationships are interwoven with inherent variations in human populations. Presently, there i… (voir plus)s no clarity in the biomedical community on which sources of population variation are most dominant. The recent advent of population-scale cohorts like the Adolescent Brain Cognitive DevelopmentSM Study (ABCD Study®) are now offering unprecedented depth and width of phenotype profiling that potentially explains interfamily differences. Here, we leveraged a deep learning framework (conditional variational autoencoder) on the totality of the ABCD Study® phenome (8,902 candidate phenotypes in 11,875 participants) to identify and characterize major sources of population stratification. 80% of the top 5 sources of explanatory stratifications were driven by distinct combinations of 202 available socioeconomic status (SES) measures; each in conjunction with a unique set of non-overlapping social and environmental factors. Several sources of variation across this cohort flagged geographies marked by material poverty interlocked with mental health and behavioral correlates. Deprivation emerged in another top stratification in relation to urbanicity and its ties to immigrant and racial and ethnic minoritized groups. Conversely, two other major sources of population variation were both driven by indicators of privilege: one highlighted measures of access to educational opportunity and income tied to healthy home environments and good behavior, the other profiled individuals of European ancestry leading advantaged lifestyles in desirable neighborhoods in terms of location and air quality. Overall, the disclosed social stratifications underscore the importance of treating SES as a multidimensional construct and recognizing its ties into social determinants of health.
Deep learning reveals that multidimensional social status drives population variation in 11,875 US participant cohort
As an increasing realization, many behavioral relationships are interwoven with inherent variations in human populations. Presently, there i… (voir plus)s no clarity in the biomedical community on which sources of population variation are most dominant. The recent advent of population-scale cohorts like the Adolescent Brain Cognitive DevelopmentSM Study (ABCD Study®) are now offering unprecedented depth and width of phenotype profiling that potentially explains interfamily differences. Here, we leveraged a deep learning framework (conditional variational autoencoder) on the totality of the ABCD Study® phenome (8,902 candidate phenotypes in 11,875 participants) to identify and characterize major sources of population stratification. 80% of the top 5 sources of explanatory stratifications were driven by distinct combinations of 202 available socioeconomic status (SES) measures; each in conjunction with a unique set of non-overlapping social and environmental factors. Several sources of variation across this cohort flagged geographies marked by material poverty interlocked with mental health and behavioral correlates. Deprivation emerged in another top stratification in relation to urbanicity and its ties to immigrant and racial and ethnic minoritized groups. Conversely, two other major sources of population variation were both driven by indicators of privilege: one highlighted measures of access to educational opportunity and income tied to healthy home environments and good behavior, the other profiled individuals of European ancestry leading advantaged lifestyles in desirable neighborhoods in terms of location and air quality. Overall, the disclosed social stratifications underscore the importance of treating SES as a multidimensional construct and recognizing its ties into social determinants of health.
Latent brain subtypes of chronotype reveal unique behavioral and health profiles: an across-cohort validation
Julie Carrier
Kai-Florian Storch
Robin Dunbar
Chronotype is shaped by the complex interplay of endogenous and exogenous factors. This trait ties into various behaviors in the wider socie… (voir plus)ty and is linked to the prevalence of psychiatric and metabolic conditions. Despite its multifaceted nature, prior research has treated chronotype as a monolithic trait across the population, risking overlooking substantial heterogeneity in neural and behavioral fingerprints of both early risers and night owls. To test for such hidden subgroups, we developed a supervised pattern-learning framework for trait subtyping, integrating three complementary brain-imaging modalities with deep behavior, diagnosis, and drug prescription profiling from 27,030 UK Biobank participants. We identified and characterized five distinct biologically valid chronotype subtypes: (1) typical eveningness, (2) depression-associated eveningness, (3) typical morningness, (4) morningness with greater expression in females, and (5) eveningness with greater expression in males. Each uncovered subtype showed unique patterns across brain, behavioral and health profiles. We finally externally validated these subtypes in 10,550 US children from the ABCD Study® cohort, which revealed reversed age distributions and replicated sex-associated brain-behavioral patterns, underscoring the fact that potential divergences between chronotype traits observed throughout adulthood may begin to emerge early in life. These findings highlight underappreciated sources of population variation that echo the rhythm of people’s inner clock.
A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort
Kuldeep Kumar
Zohra Saci
Martineau Jean-Louis
Xiaoqian J. Chai
Tian Ge
B. T. Thomas Yeo
Paul M. Thompson
Carrie E. Bearden
Ole A. Andreassen
Sébastien Jacquemont
Our genetic makeup, together with environmental and social influences, shape our brain's development. Yet, the imaging-genetics field has st… (voir plus)ruggled to integrate all these modalities to investigate the interplay between genetic blueprint, brain architecture, environment, human health and daily living skills. Here we interrogate the Adolescent Brain Cognitive Development (ABCD) cohort to outline the effects of rare high-effect genetic variants on brain architecture and their corresponding implications on cognitive, behavioural, psychosocial and socioeconomic traits. We design a holistic pattern-learning framework that quantitatively dissects the impacts of copy number variations (CNVs) on brain structure and 938 behavioural variables spanning 20 categories in 7,338 adolescents. Our results reveal associations between genetic alterations, higher-order brain networks and specific parameters of the family wellbeing, including increased parental and child stress, anxiety and depression, or neighbourhood dynamics such as decreased safety. We thus find effects extending beyond the impairment of cognitive ability or language capacity which have been previously reported. Our investigation spotlights the interplay between genetic variation and subjective life quality in adolescents and their families.
A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort
Kuldeep Kumar
Zohra Saci
Martineau Jean-Louis
Xiaoqian J. Chai
Tian Ge
B. T. Thomas Yeo
Paul M. Thompson
Carrie E. Bearden
Ole A. Andreassen
Sébastien Jacquemont
Our genetic makeup, together with environmental and social influences, shape our brain's development. Yet, the imaging-genetics field has st… (voir plus)ruggled to integrate all these modalities to investigate the interplay between genetic blueprint, brain architecture, environment, human health and daily living skills. Here we interrogate the Adolescent Brain Cognitive Development (ABCD) cohort to outline the effects of rare high-effect genetic variants on brain architecture and their corresponding implications on cognitive, behavioural, psychosocial and socioeconomic traits. We design a holistic pattern-learning framework that quantitatively dissects the impacts of copy number variations (CNVs) on brain structure and 938 behavioural variables spanning 20 categories in 7,338 adolescents. Our results reveal associations between genetic alterations, higher-order brain networks and specific parameters of the family wellbeing, including increased parental and child stress, anxiety and depression, or neighbourhood dynamics such as decreased safety. We thus find effects extending beyond the impairment of cognitive ability or language capacity which have been previously reported. Our investigation spotlights the interplay between genetic variation and subjective life quality in adolescents and their families.
Quantifying associations between socio-spatial factors and cognitive development in the ABCD cohort.
Quantifying associations between socio-spatial factors and cognitive development in the ABCD cohort
High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology
Kuldeep Kumar
Zohra Saci
Martineau Jean-Louis
Xiaoqian J. Chai
Tian Ge
B.T. Thomas Yeo
Paul M. Thompson
Carrie E. Bearden
Ole A. Andreassen
Sébastien Jacquemont
Our genetic makeup, together with environmental and social influences, shape our brain's development. Yet, the imaging genetics field has st… (voir plus)ruggled to integrate all these modalities to investigate the interplay between genetic blueprint, environment, human health, daily living skills and outcomes. Hence, we interrogated the Adolescent Brain Cognitive Development (ABCD) cohort to outline the effects of rare high-effect genetic variants on brain architecture and corresponding implications on cognitive, behavioral, psychosocial, and socioeconomic traits. Specifically, we designed a holistic pattern-learning algorithm that quantitatively dissects the impacts of copy number variations (CNVs) on brain structure and 962 behavioral variables spanning 20 categories in 7,657 adolescents. Our results reveal associations between genetic alterations, higher-order brain networks, and specific parameters of the family well-being (increased parental and child stress, anxiety and depression) or neighborhood dynamics (decreased safety); effects extending beyond the impairment of cognitive ability or language capacity, dominantly reported in the CNV literature. Our investigation thus spotlights a far-reaching interplay between genetic variation and subjective life quality in adolescents and their families.