Guillaume Huguet

GeoSinkhorn Flow: Geometry-Aware Flow Matching for Perturbation-Conditioned Dynamics in Single cell Data Phenoscapes

GeoSinkhorn Flow converts static phenoscapes into dynamic ones by learning perturbation-conditioned transport trajectories that respect the phenoscape's geometry and generalize to unseen conditions.

gVCF2CNV: a scalable pipeline for CNV detection from whole-genome sequencing data

gVCF2CNV converts gVCF files into CNV-compatible signals for large-scale WGS cohorts, achieving high precision in detecting deletions and duplications.

Determinants of functional burden pleiotropy and gene dosage responses across human traits

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

MCNV2 (Mendelian CNV Validation): Mendelian Precision for CNV quality assessment

MCNV2 assesses CNV quality using Mendelian Precision, offering tools to compute, explore, and optimize CNV call accuracy in parent-offspring trios.

Genetic and Cortical Cell-Type Liability Architecture of Autism

This study maps ASD genetic liability across cortical cell types using a functional genetic burden analysis of 124,416 individuals, showing developmentally dynamic liabilities and variant-specific contributions to different cell types.

LEAP-InovAND a multiscale resource to explore genetics, brain imaging and clinical data in autism

The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children

The paper develops predictive models for intellectual disability in autistic children by integrating genetic variants and developmental milestones, achieving an AUC ROC of 0.65 and identifying 10% of ID cases.

Genomic deletion and duplication effects on cognitive ability lie at the opposing ends of the cortical sensorimotor-association hierarchy

The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

Copy number variants differ in frequency across genetic ancestry groups

The paper examines CNV frequency differences across genetic ancestry groups and finds lower prevalence of deleterious CNVs in non-European ancestry groups.

High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology

The paper investigates the impact of rare high-effect genetic variants on brain morphology and related behavioral traits in adolescents using the ABCD cohort.

Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability

This study shows that rare CNVs and PRS-IQ increase ASD risk independently of their effects on cognitive ability, suggesting ASD risk and cognitive ability are distinct outcomes of these variants.

Using rare genetic mutations to revisit structural brain asymmetry

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach

The paper introduces a multi-polygenic risk score approach to study ASD's genetic architecture, finding that multi-PRSs capture similar risk as traditional PRS-ASD but reveal developmental mirroring effects.

Subcortical brain alterations in carriers of genomic copy number variants

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

The paper investigates how copy number variants in circadian pathway and insomnia risk genes contribute to ASD risk and sleep disturbances in children with ASD.

Sub-diagnostic effects of genetic variants associated with autism

The paper maps the odds ratio for autism associated with rare LoF variants in autism-associated genes and shows sub-diagnostic effects in undiagnosed individuals.

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence

The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs

Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.

Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia

The paper examines how CNVs in 16p11.2 and 22q11.2 affect functional brain connectivity in neuropsychiatric disorders, identifying shared dysconnectivity patterns across ASD, SZ, and deletions.

Effects-sizes of deletions and duplications on autism risk across the genome

The paper estimates the effect sizes of deletions and duplications on autism risk and IQ using statistical models applied to CNV data from multiple cohorts.

Neuropsychiatric copy number variants exert shared effects on human brain structure

The paper examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.

Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability

The paper quantifies the effect of copy number variants on cognitive ability using genomic data from 24,092 individuals, finding that 10,000 genes modulate intelligence.

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia.

The paper conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

Both rare and common genetic variants contribute to autism in the Faroe Islands

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

Genomic architecture of human neuroanatomical diversity

The paper analyzes neuroimaging and genotyping data to show that 54% of neuroanatomical heritability is explained by many small-effect SNPs across the genome.