Giuseppe Tosto

This study performs a multi-ancestry transcriptome-wide association study (TWAS) to identify shared and population-specific genetic effects in Alzheimer's disease using RNA-seq and genotype data from multiple cohorts.

This study reviews heritability estimates for late-onset Alzheimer's disease, showing significant variation across studies and highlighting the importance of population and methodological context.

SAGA is a user-friendly, automated pipeline that simplifies GWAS by integrating PLINK, GMMAT, and SAIGE, enabling non-experts to perform reproducible analyses.

The paper develops an imputation panel integrating structural variants for Alzheimer's disease and related dementias, improving genotype imputation and identifying new genetic associations.

This study identifies ABCA7-dependent neuropeptide Y signaling as a resilience mechanism critical for synaptic integrity and its disruption as a risk factor for Alzheimer's disease.

The paper analyzes bulk RNA-seq data from diverse ethnic groups to identify differentially expressed genes and pathways in Alzheimer's Disease, highlighting cross-ethnic and ethnic-specific findings.

The paper identifies six genetic loci associated with Alzheimer's disease in Hispanics, showing both genetic and epigenetic risks, with some downstream effects on mRNA expression being ethnicity-specific.

This study identifies three novel genetic loci associated with brain arterial diameters through a genome-wide association analysis across diverse populations.

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.

This study benchmarks GWAS models in admixed populations, finding SAIGE has better type-I error control while Tractor excels in detecting ancestry-specific variants but struggles with small samples.

The paper shows that Ngfr promotes neurogenesis and reduces amyloid pathology in AD mouse models by suppressing Lcn2/Slc22a17 signaling.

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

The paper analyzes RNA-seq data from Caribbean-Hispanic Alzheimer's patients and controls to identify ancestry-specific gene expression patterns associated with disease.

This study compares imputation accuracy for rare and ultra-rare variants in an admixed Caribbean Hispanic population using different reference panels and tools, finding that larger reference panels improve imputation quality.

The paper uses whole exome sequencing in 20,197 individuals to identify rare variants associated with Alzheimer's disease, finding significant associations with SORL1 loss-of-function variants.

The paper constructs polygenic risk scores for sporadic late-onset Alzheimer's Disease and finds shared genetic architecture with familial and early-onset forms, showing varying odds ratios across cohorts.