Launching sub-analysis

You can further analyse a finished analysis by:

  • Filtering by gene list
  • Applying an algorithmic filter

Gene list analysis

Filter the results of a finished analysis to show only those variants falling within (including 500 base pairs up and downstream) the genes given.

sub1
  • Analysis: choose the analysis to be filtered.
  • Gene List: choose a gene list to filter by
  • Phenotypes: choose a list of phenotypes. A gene list will be built using the genes associated with the chosen phenotypes. When filtering by phenotype, you can also choose to filter by genes associated with all the phenotypes or with any of them.

Algorithmic filters

You can apply sophisticated filters to finished analyses. To find the algorithmic filters click on Launch analysis in the main menu, then click on “Algorithmic filter analysis”:

  • New filters are added frequently. To learn what each filter does, please click on the info icon.
  • To start an algorithmic filter, choose the target analysis, select click an algorithmic filter, and then on click on Start analysis.

CNV/SV analysis

This analysis can be run with three different classes of input:

  1. Five or more (ideally, around ten) non-WGS germline or tumor samples, from the same sequencing run, as a cohort analysis. All samples will be analyzed together and results for each sample will be shown as a subanalysis of that sample. This type of input will be analyzed using the ExomeDepth CNV caller.
  2. One or more whole genome samples, each run as a separate analysis. This type of input will be analyzed using the Delly structural variant caller
  3. One germline and one tumor whole genome samples, from the same Assay, to be run as a Tumour/Normal analysis. This type of input will be analyzed using the Delly structural variant caller