Mattia Frontini

This study identifies genetic determinants of endothelial cell molecular traits and their overlap with disease GWAS loci, revealing shared and unique mechanisms in non-communicable diseases.

The paper identifies trimodal QTLs that jointly affect enhancer accessibility, promoter contacts, and gene expression in monocytes, revealing genetic links between enhancer activity and chromatin boundaries.

This paper identifies 32 genes with altered expression in platelets from MPN patients, linking them to thrombosis and bleeding risks, and suggests clinical applications for risk stratification and treatment tailoring.

The paper maps promoter interactions in human ILC3s using PCHi-C and links GWAS risk variants to target genes, identifying new autoimmune disease risk genes.

The paper identifies molecular and metabolic signatures of cardiometabolic syndrome using extreme phenotype groups and shows changes after bariatric surgery.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

The paper identifies novel long non-coding RNAs and circular RNAs in hematopoietic cells using BLUEPRINT consortium data, highlighting their cell type specificity.

The paper identifies how variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility and cell count differences.

The paper identifies DNA methylation oscillations as a marker for enhancer classification, showing high predictive power compared to other methods.

The paper shows that inhibiting Kat2a increases transcriptional heterogeneity in mouse embryonic stem cells, leading to reduced pluripotency and accelerated differentiation.

The paper maps the epigenomic and functional changes during human neutrophil differentiation from bone marrow progenitors to mature cells, revealing key regulatory mechanisms.

This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.

The paper identifies autoimmune disease candidate genes by integrating promoter capture Hi-C data with genetic associations in activated CD4+ T cells.

The paper measures and compares transcriptional and epigenetic variability across immune cell types and finds neutrophils exhibit higher variability linked to immune pathways and environmental exposure.