Diseases can easily be added when a new interpretation project is created. 1) After selecting “Add...
How can diseases be added to an interpretation project?
read more
FAQs
What are the acceptance standards associated with a Non-Regression Report?
The acceptance standard for a Non-Regression Report is that the overall variant detection...
In the Variant Filter Builder, how can the “Value” field be used to apply filters to search for variants that have a 4/5 or pathogenic Community ranking?
The Variant Filter Builder is a cross functional tool that allows you to create and apply custom...
If any issues are encountered through the Non-Regression Report, what is the time frame to address them?
The SOPHiA DDM™ Platform updates are not released until all known issues are addressed. The...
How are Non-Regression Reports obtained?
Upon request, Non-Regression Reports for validated solutions are provided by SOPHiA GENETICS and...
What are the criteria for a region to be classified as “off target” in the low confidence variants?
Variants outside the target region defined by the solution are filtered as “off-target”. – For...
When are Non-Regression Reports generated?
Non-Regression Reports are generated after major the SOPHiA DDM™ Platform updates that could...
Why does the SOPHiA DDM™ Platform present a systematic variant different from the reference sequence (e.g. T instead of C)?
Variants displayed within the SOPHiA DDM™ Platform are relative to the reference genome (hg19)....
What does the “Potential Allele Dropout” warning mean?
This warning only affects amplicon-based target enrichment. The presence of a variant in the...
Why are there occasional differences in INDEL variant fractions between the SOPHiA DDM™ Platform and other software (such as IGV)?
The variant fraction of the INDEL is based on all the reads at the start position of the deletion...
Is it possible to detect genomic (structural) rearrangements with paired-end Amplicon-based data?
The SOPHiA DDM™ Platform does not use paired-end information through Amplicon-based technology to...
Why does the Coverage Calculator in the SOPHiA DDM™ Platform show zero coverage for some genes when other sources indicate there are sufficient reads to detect variants?
In the SOPHiA DDM™ Platform, the Coverage Calculator shows the worst-case minimum coverage among...