Giulio Genovese

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper analyzes single-nucleus RNA-seq data from the human striatum and prefrontal cortex to study inter-individual variation in cell abundances and gene expression, finding age-related changes and genetic associations.

The paper uses village editing to study how genetic backgrounds affect the impact of schizophrenia-associated mutations in human neurons.

The paper investigates the association between mosaic loss events in blood and schizophrenia or bipolar disorder, finding increased odds ratios in young-onset cases.

The paper identifies genetic variants that influence neuronal responses to interferons by analyzing gene expression and STAT1 binding in iPSC-derived neurons.

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

This study evaluates imputation performance of reference panels in a Pakistani population, finding that ex1KG outperforms TOPMed despite its smaller size.

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

This study identifies 240 novel genetic loci associated with mosaic loss of chromosome Y through a multi-ancestry GWAS of the Million Veteran Program and UK Biobank.

The paper identifies a neuron-astrocyte gene expression program, SNAP, that declines in aging and schizophrenia, linking it to cognitive function and genetic risk factors.

The paper examines the prevalence, morbidity, and mortality of sex chromosome aneuploidy in men from the MVP cohort, finding a prevalence of 1 in 370 males with higher healthcare utilization and poorer HRQoL but similar life expectancy compared to controls.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

The paper uses brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia and identifies enriched networks and genes associated with the disease.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

This study identifies genetic variants associated with severe COVID-19 and finds shared genetic architecture with complex diseases using EHR data from the Million Veteran Program.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

The paper validates polygenic risk scores for schizophrenia, bipolar disorder, and depression using VA EHR data and shows their association with disease risk and hospitalization.

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

The paper identifies a genetic variant in SPDL1 that links pulmonary fibrosis risk and cancer protection through antagonistic pleiotropy.

The paper compares ten polygenic score methods for psychiatric disorders across multiple cohorts, finding that some methods significantly improve prediction statistics over the baseline PC+T method.

The paper investigates the role of mosaic copy number variants (mCNVs) in autism spectrum disorder (ASD) by analyzing genetic data from ASD probands and unaffected siblings, finding a significant association between large mCNVs and ASD risk.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

This study performs whole genome sequencing of human embryonic stem cells to identify genetic variants and provides resources for cell line selection.

The paper identifies dispersed duplications and de novo structural mutations using whole-genome sequencing data from 706 families by analyzing IBD relationships and copy number variations.

The paper identifies inherited and acquired genetic variants that increase susceptibility to clonal hematopoiesis by influencing clonal selection through monogenic and polygenic mechanisms.