MOV&RSim: computational modelling of cancer-specific variants and sequencing reads characteristics for realistic tumoral sample simulation

Abstract 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 calli...

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Prif Awduron:	Francesca Longhin, Giacomo Baruzzo, Enidia Hazizaj, Diego Boscarino, Dino Paladin, Barbara Di Camillo
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2025-11-01
Cyfres:	BMC Bioinformatics
Pynciau:	Realistic simulation Cancer-specific presets Genetic variants Tumoral clonality Sequencing reads Tumoral heterogeneity
Mynediad Ar-lein:	https://doi.org/10.1186/s12859-025-06292-0
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