Elisabetta Manduchi

This study shows that Steap2 is essential for glucose-stimulated insulin secretion in mice by maintaining mitochondrial function in pancreatic beta-cells.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

The paper describes the development of a beta cell genomics application ontology (BCGO) based on the Ontology for Biomedical Investigations, validated through data annotation, queries, and automated classification.

The paper examines age-related DNA methylation changes in beta and alpha cells using HPAP data, finding accelerated demethylation in T2D beta cells.

This study identifies 91 risk loci for gallstone disease through a trans-ancestry GWAS, including 37 novel loci, and links them to metabolic and liver-related traits.

This study shows IFN-α induces heterogeneous ROS production in human β-cells, with healthier donors having more ROS-accumulating cells, and identifies enriched immune-related genes in ROS-producing cells.

The paper identifies transitional cell states between alpha and beta cells in human islets using single-cell multiome data, suggesting potential for alpha-to-beta transdifferentiation.

This study identifies G6PC2's role in regulating glucagon secretion in α-cells, showing it controls glucose setpoint and suggests G6PC2 inhibitors could improve glycemic control.

The paper maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study uses TPOT to identify SNPs associated with coronary artery disease, finding 28 recurrent SNPs with functional relevance to known CAD genes and distinct clusters of predicted CAD cases.

The paper extends the TPOT AutoML tool to include covariate adjustments in biomedical data analysis, showing its utility in toxicogenomics and gene expression studies.

This study shows that FoxA factors are essential for maintaining the hepatic gene regulatory network in adult mice, as their loss leads to rapid hepatocyte dedifferentiation and lethality.

This paper identifies functional variants and regulatory elements at SLE GWAS loci using 3D chromatin maps of TFH cells, revealing novel genes and regulatory interactions.

The paper fine-maps 77 GWAS loci in the human liver by integrating epigenetic and gene expression data to understand genetic and epigenetic regulation of gene expression.

The paper uses SPATIaL-seq and ATAC-seq to identify novel effector genes at GWAS loci for bone mineral density by mapping variant-promoter interactions in osteoblasts.

The paper identifies a causal variant near TMEM106B that alters chromatin architecture and gene expression, linking it to frontotemporal lobar degeneration and neurodegenerative disease risk.