Figure 1

Screenshot of interactive graphical filter. (a) In Annotate-it, the graphical interactive filter allows the user to view the distributions of a number of parameters and interactively set filter settings. Filters can be adapted by dragging thresholds or clicking to select/deselect certain types of variants. Filtering on one parameter shows the impact on all other parameters in near real time. Plots included at the time of writing are (clockwise starting from upper left) coverage, variant allele frequency, presence in public databases, Phylop scores, the number of candidate genes hit in a given amount of samples, and Phastcons scores. Once satisfied the user can apply the filter settings and inspect the resulting gene lists. (b, c) Zoomed in portions of the interactive filter show a bar plot showing the proportions of variants of different consequence types (b) and the distribution of conservation scores for (red) primates, (blue) mammals, (green) vertebrates (c).