Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: Genome analysis and knowledge-driven variant interpretation with TGex

Fig. 2

The TGex analysis screen (SNVs). The example shown here (and in Fig. 3) is a case of non-syndromic congenital diarrhea [54]. Following WES, the variant with the strongest phenotype implication for “diarrhea” was within TTC37 (L761P), a known gene for trichohepatoenteric syndrome. The discovery of this novel homozygous damaging missense variant was significant for providing an effective diagnosis for a misdiagnosed case. a The main analysis screen is designed to optimally provide the analyst with information and user-interface options. The main analysis area is divided into dedicated tabs for each genetic model used for the analysis, and an additional tab for incidental findings. Each tab is an interactive table where each row represents a variant, and each column depicts a particular variant attribute. The attributes are divided into 7 categories, each category is collapsed by default, showing a subset of critical attributes, with an option to expand. Each column has two interactive functionalities – sorting (by a click on the header) and filtering (clicking on the filter icon to the right). b The Filters and Tools pane summarizes all applied filters for a specific tab in a given analysis. Via this pane, or alternatively via each of the attribute columns in the main analysis screen, filters can be easily added, edited or removed while reviewing the variants. All applied filters are also documented in the Methods section of the final report. In addition to the column filters described above, the pane includes advanced filter options, including predefined gene panels, manually entered gene list filters, VarElect terms used for phenotype prioritization, and Disease frequency used for the allele frequency filter

Back to article page
\