Alberto Magi

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.

This study identifies Schwann cell 5-HT1B/D signaling as a dual mediator of triptan efficacy and medication-overuse headache via TGF-β3-driven proalgesic pathways.

This study benchmarks DNA foundation models for zero-shot variant effect prediction, showing that large multi-species models outperform human-only models in capturing contextual effects.

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.

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.

MAtCHap solves the single individual haplotype assembly problem using a novel maximum allele co-occurrence approach, outperforming existing methods on long read datasets.

NanoR is an R package that simplifies nanopore sequencing data visualization and comparison between MinION and GridION X5 platforms.