Luca Mazzarella

The paper quantifies seed-induced clustering variability in scRNA-seq and introduces SABER to improve stability and reduce computational cost.

RENOVO-NF1 predicts pathogenicity of NF1 missense variants with high accuracy, reclassifying many variants of unknown significance.

PoreMeth2 identifies differentially methylated regions using Nanopore sequencing, revealing epigenomic changes in cancer and glial cells.

GASOLINE detects germline and somatic structural variants from long-read sequencing data with high accuracy, outperforming existing methods in synthetic and real datasets.

The paper uses nanopore sequencing to map DNA methylation in AMLs, revealing hypermethylation at CpG-poor regions drives chemoresistance through transcription factor networks.