Roberto Semeraro

This study examines the long-term effects of mavacamten on sarcomere structure and function in hiPSC-derived cardiomyocytes from HCM patients, finding a biphasic reduction in force and structural remodeling.

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.

This study demonstrates that long-read sequencing using Oxford Nanopore Technologies can rapidly and accurately detect pathogenic unbalanced structural variants with resolution comparable to traditional methods.