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...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	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
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	BMC 2026-06-01
סדרה:	Genome Medicine
נושאים:	Somatic variant calling Single nucleotide variant Somatic SNV Somatic mutation Tumor-normal sequencing Somatic call benchmarking
גישה מקוונת:	https://doi.org/10.1186/s13073-026-01675-1
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!