Fig. 1.

Overview of thesaurus annotation of variants in a sample/control pair. On top, a control genome contains two germline variants: one in a high- (left) and one in a low-mappability region (right). Reads with evidence for the latter variant are distributed over two sites. On bottom, a related genome contains the same germline variants and two mutations. Thesaurus clusters of variants accurately capture the true features in the samples. Allelic frequency (AF) estimates are shown for each variant