Exon coverage search

The sequencing and alignment process isn't perfect and often there are regions of poor coverage as a result of the pipeline analysis. Previously we made the coverage reports available for download as part of our datasets as 'exonReports'. We've taken it a step further by allowing users to search through these coverage reports based on gene, patient ID and coverage type (NO_COVERAGE, POOR_COVERAGE, PARTIAL_COVERAGE). To use this new feature, in the menus, choose 'Search exon coverage'. Furthermore, we added a new tab to display exon coverage to go along with the variant search results. The tab will only have results if users search by Patient ID and Gene. This way users can browse variants and the coverage results side-by-side providing a broader view over the quality of the variants being presented. In particular, this will be useful for difficult to diagnose patients for which no causal variants have been identified, where potentially disease-causing variants may lay hidden in uncovered regions of the genome.

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Supplementary information available for download