Article
VariantMedium: sensitive and generalizable somatic point mutation calling with 3D DenseNets trained and evaluated on experimental data.
Genome medicine - 19 Jun 2026
Muslu Özlem, Bukur Thomas, Riesgo-Ferreiro Pablo, Kher Sameesh, Akbarinejad Shaya, Kress Luis, Gangi Maurici Stefania, Asim Muhammad Nabeel, Henrich Alina, Ahmed Sheraz, Dengel Andreas, Löwer Martin, Ibn-Salem Jonas, Sahin Ugur
Abstract excerpt
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 from matched tumor-normal data, but they suffer from low sensitivity especially in certain genomic regions. METHODS: Here...
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