Fig. 2

Web-interface displaying an ongoing analysis. The left sidebar shows the user-set configurations, and the central-right box displays the pedigrees used in the analysis stacked above a real-time progress box. Once complete, a summary will automatically open in a new browser tab. Here, 4 individuals’ data from 3 families were analysed, with pipeline settings configured in the left side-bar; case VCF files auto selected, core modules running on default settings, optional modules configured to use linkage data, call quality filtering (> 20), rare variant filtering (< 1%), non-synonymous mutations requested, and an autosomal recessive inheritance filtering model applied in conjunction with gene-level variant filtering