VariantMedium: sensitive and generalizable somatic point mutation calling with 3D DenseNets trained and evaluated on experimental data

Abstract Background Accurately identifying somatic variants from genomic sequencing is crucial for understanding and treating cancer. Previously, methods based on statistics and heuristics, as well as methods based on machine learning were proposed for somatic single nucleotide variant (SNV) calling...

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Autori principali:	Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher, Shaya Akbarinejad, Luis Kress, Stefania Gangi Maurici, Muhammad Nabeel Asim, Alina Henrich, Sheraz Ahmed, Andreas Dengel, Martin Löwer, Jonas Ibn-Salem, Ugur Sahin
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2026-06-01
Serie:	Genome Medicine
Soggetti:	Somatic variant calling Single nucleotide variant Somatic SNV Somatic mutation Tumor-normal sequencing Somatic call benchmarking
Accesso online:	https://doi.org/10.1186/s13073-026-01675-1
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