Article
MOV&RSim: computational modelling of cancer-specific variants and sequencing reads characteristics for realistic tumoral sample simulation.
BMC bioinformatics - 27 Nov 2025
Longhin Francesca, Baruzzo Giacomo, Hazizaj Enidia, Boscarino Diego, Paladin Dino, Di Camillo Barbara
Abstract excerpt
BACKGROUND: Bioinformatics pipelines for variant calling have undergone significant advancements due to the decreasing costs of next-generation sequencing. Accurate mutation detection is crucial for personalised medicine in cancer, particularly in assignment of therapy. Somatic variant calling, however, remains challenging due to diverse cancer types, heterogeneity, complex mutational profiles, and unpredictable...
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