Semi-supervised segmentation and genome annotation

Abstract

Segmentation and genome annotation methods automatically discover joint signal patterns in whole genome datasets. Previously, researchers trained these algorithms in a fully unsupervised way, with no prior knowledge of the functions of particular regions. Adding information provided by expert-created annotations to supervise training could improve the annotations created by these methods. We implemented semi-supervised learning using virtual evidence in the annotation method Segway. Additionally, we defined a positionally tolerant precision and recall metric for scoring genome annotations based on the proximity of each annotation feature to the truth set. We demonstrate semi-supervised Segways ability to learn patterns corresponding to provided transcription start sites on a specified supervision label, and subsequently recover other transcription start sites in unseen data on the same supervision label.