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Author

Luca Bertoli

2 papers indexed here

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Open access Aug 2026

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell-cycle, MAPK, and PI3K pathways.

Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi-omic analysis, including whole exome-, RNA-, and ta...

Matilde Monti, Martina Brigida Romanello, L. Agnelli et al. · 0 citations
Open access Sep 2026

Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity

A single genomic assay that delivers complete information across variant classes remains an aspirational goal. Currently, researchers and clinicians rely on an inefficient, expensive combination of short-read sequencing for single-nucleotide variants (SNVs) and small indels, comparative genomic hybridization (CGH) ar...

Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al. · 0 citations

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