Probabilistic graphical models for computational biomedicine

As genomics becomes increasingly relevant to medicine, medical informatics and bioinformatics are gradually converging into a larger field that we call computational biomedicine.

Developing a computational framework that is common to the different disciplines that compose computational biomedicine will be a major enabler of the further development and integration of this research domain.

Probabilistic graphical models such as Hidden Markov Models, belief networks, and missing-data models together with computational methods such as dynamic programming, Expectation-Maximization, data-augmentation Gibbs sampling, and the Metropolis-Hastings algorithm provide the tools for an integrated probabilistic approach to computational biomedicine.

We show how graphical models have already found a broad application in different fields composing computational biomedicine. We also indicate several challenges that lie at the interface between medical informatics, statistical genomics, and bioinformatics. We also argue that graphical models offer a unified framework making it possible to integrate in a statistically meaningful way multiple models ranging from the molecular level to cellular and to clinical levels. Because of their versatility and firm statistical underpinning, we assert that probabilistic graphical models can serve as the lingua franca for many computationally intensive approaches to biology and medicine. As such, graphical models should be a foundation of the curriculum of students in these fields. From such a foundation, students could then build towards specific computational methods in medical informatics, medical image analysis, statistical genetics, or bioinformatics while keeping the communication open between these areas.