Platform Updates VarSome Clinical

VarSome & VarSome Clinical v.11.2.1

By Richard Meyer on March, 1 2022

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Richard Meyer

CTO

This morning (01/03/22) we performed a patch release on VarSome Clinical.

This introduced a new “Exonic and splicing” algorithmic filter that only keeps exonic (including UTR and other non-coding exons) and splicing (no more than 10 nucleotides from a known splice site) variants:

The filter may be launched manually, just like any other, but it will also be run automatically on any analyses with more than 500 000 variants. 

This algorithmic filter provides the same results as would occur if you made a dynamic filter with the following:

  • Coding
  • Splicing
  • Non-coding exon +3’ utr
  • Non-coding exon +5’ utr 

The aim of this filter, and the reason it will run automatically for large analyses, is to provide a smaller subset of results to the user which will be far quicker and easier to sort through. Since, even with WGS analyses, the variants of interest tend to be those that can affect the protein sequence, we feel that this filter will help our users quickly identify and focus on the variants of interest even on larger samples such as WGS.

Please note that while the filter will be run automatically for such large analyses, the full result set will still be available as usual. The filter will run as a sub-analysis and will not affect the results of the main, parent analysis in any way.

In the meantime, if you have any further questions about the impact this may have on your analysis results please contact us at support@varsome.com

 

The VarSome Team

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