Bernat Gel

The paper identifies specific HLA class I and II alleles associated with increased risk of certain tumor types in NF1 patients using RNA-seq and DNA sequencing data.

This paper identifies three distinct molecular subtypes of MPNSTs with unique genomic features and progression paths, offering a framework for improved diagnosis and treatment.

This paper uses iPSC-derived neural crest models to mimic MPNST progression and identifies PARPi as a potential therapy for PRC2-deficient tumors.

This paper analyzes genomic alterations in MPNST cell lines to challenge their current diagnosis, finding significant differences between NF1-related and sporadic lines.

This study benchmarks CNV detection tools on NGS panel data for genetic diagnostics, finding DECoN and panelcn.MOPS suitable as screening methods with optimized parameters.

karyoploteR creates customizable linear genome plots with annotations and data for any species.