Francesca Demichelis

The paper evaluates the T2T-CHM13 reference genome's impact on mapping bias and alignment accuracy at disease-associated variants, finding reduced bias and improved precision.

The paper profiles EV-RNA and cfDNA from mCRPC patients to identify prognostic biomarkers and tumor microenvironment signals.

EXaCT-2 is a whole exome sequencing platform that detects various cancer-related genomic features with high accuracy and sensitivity, outperforming standard assays in detecting sub-clonal mutations and molecular metrics.

This paper introduces METER, a computational tool that enables sensitive tumor detection, accurate quantification, and cancer subtype classification using low-pass whole methylome sequencing of plasma DNA.

This study provides a multiomics resource of cancer extracellular vesicles, showing correlations between LO proteins and prostate cancer progression, and demonstrating the feasibility of single-cell RNA-Seq on EVs.

The paper identifies ANP32E as a driver of vulnerability to ATR inhibitors in triple-negative breast cancer by promoting R-loop-dependent transcription replication conflicts and genomic instability.

This study shows that CHD8 suppression reduces H3K36me3 levels and alters alternative splicing of ~2000 genes, linking CHD8 to RNA processing and ASD.

This study identifies molecular subgroups of BPH and suggests mTOR inhibitors as a potential therapy for specific subtypes.

EthSEQ annotates ethnicity from whole exome sequencing data with high precision, validated on 1,000 Genome Project and TCGA datasets.

This study reports that 17% of advanced cancer patients have clinically relevant germline variants, with higher rates of cancer-associated variants compared to control cohorts.