Launching sub-analysis

You can further analyse a finished analysis by:

  • Filtering by gene list
  • Applying an algorithmic filter
  • Detecting Structural Variants (SVs) or Copy Number Variants (CNVs)

Gene list analysis

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

  • Analysis: choose the analysis to be filtered.
  • Gene List: choose a gene list to filter by. For more details see: Gene lists
  • 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.

The methodology to generate a gene list from phenotype(s) has been changed. Previously, when making a gene list from phenotypes, only those genes that are directly annotated with that phenotype were included. We have now extended this and instead first collect all diseases linked to the phenotype and then all genes linked to those diseases, as well as any genes directly linked to the phenotype.

Algorithmic filters

You can apply sophisticated filters to finished analyses. For several of the existing filters we now provide the option to change specific parameters. That way you can customize each of those filters according to your needs.

To find them please go to Algorithmic filter analysis on VarSome Clinical. For more information about algorithmic filters, please refer to the corresponding article Algorithmic filters.

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

Please, visit the article CNV/SV analysis to find out how to run a CNV analysis from FASTQ or VCF.