Fig. 2

Query interface and outputs in WEScover. a The initial screen for user query. Users can specify genes of interest (‘Gene symbol’) directly. Otherwise, phenotype (‘GTR Phenotype’ or ‘HPO Phenotype’) or gene panel test name (‘GPT name’) can be used to search for related genes. Lastly, the expected depth of coverage level (‘Depth of coverage’) and human genome reference assembly version used in calculating coverage (‘Human reference genome assembly version’) need to be selected. b The result summary screen for the selected genes. Clicking ‘Detail’ button (under the column ‘Action’) opens a window with more information such as breadth of coverage per continent-level population, its distribution in different populations (c), coverage value from gnomAD exomes (d), differences across populations, and list of gene panels including the transcript for selected gene. c The violin plot shows the distribution of coverage metrics from 1KGP exomes in each of the five continent-level populations. The black horizontal line denotes the global average value from gnomAD exomes. d The coverage plot (upper part) shows the per-locus coverage metric from gnomAD exomes across the gene. The per-locus coverage metric values are shown at various levels from 5x (red) to 100x (blue). The transcript(s) for the gene is shown beneath the coverage plot: light blue blocks for untranslated regions and dark blue blocks for exons. To highlight the coverage on exons, the introns are scaled down to the same length. The lengths of exons are maintained. It may show multiple transcripts for the gene, even if a single CCDS ID was selected