Skip to main content
Fig. 1 | Genome Medicine

Fig. 1

From: Hidden Markov models lead to higher resolution maps of mutation signature activity in cancer

Fig. 1

Overview of the SIGMA model. The input data consists of (a) a set of predefined signatures that form an emission matrix E (here, for simplicity, represented over six mutation types) and (b) a sequence of mutation categories from a single sample and a distance threshold separating sky and cloud mutation segments. c The SIGMA model has two components: (top) a multinomial mixture model (MMM) for isolated sky mutations and (bottom) an extension of a hidden Markov model (HMM) capturing sequential dependencies between close-by cloud mutations; all model parameters are learned from the input data in an unsupervised manner. dSIGMA finds the most likely sequence of signatures that explains the observed mutations in sky and clouds

Back to article page