gnomAD data are displayed in the Allele Frequency Databases track. Right-clicking on the variant...
FAQs
Is it possible to see all variants detected, including low VF variants to see the rare frequency mutations in somatic samples?
It is only possible to visualize what a bioinformatic pipeline reports, i.e. variants below the...
How to interpret the scores given by variant pathogenicity predictors such as Polyphen2, SIFT and MutationTaster provided in the SOPHiA DDM™ Platform, and compare these values to those provided by the respective tools?
The SOPHiA DDM™ Platform normalizes the scores provided by the different tools to enable...
What is the multi-sample variant caller and how does it work?
This filter is designed to reduce the number of false positive (FP) variant calls and avoid false...
How does the screening analysis work?
During variant analysis, the SOPHiA DDM™ Platform has the capability to directly ascertain the...
How to search for a variant in the Variant Database Browser (VDB)?
The Variant Database Browser (VDB) can be filtered according to various pre-set parameters such...
Is it possible to see all variants detected, including low VF variants to see the rare frequency mutations in somatic samples?
It is only possible to visualize what a bioinformatic pipeline reports, i.e. variants below the...
What is the difference between exon rank and exon id?
Both exon numbering systems are available in the SOPHiA DMM™ Platform. – On the SNVs/INDELs and...
Why is BRCA1 exon 4 not displayed in the CNV results?
There are two different BRCA1 exon naming conventions. 1) The BRCA1 legacy exon nomenclature is...
How to interpret the scores given by variant pathogenicity predictors such as Polyphen2, SIFT and MutationTaster provided in the SOPHiA DDM™ Platform, and compare these values to those provided by the respective tools?
The SOPHiA DDM™ Platform normalizes the scores provided by the different tools to enable...
What do the various pseudogene (e.g. PMS2CL) variant warnings mean?
Using PMS2 and PMS2CL as an example: For both gene and pseudogene, exons 11-15 are very similar...
How does the screening analysis work?
During variant analysis, the SOPHiA DDM™ Platform has the capability to directly ascertain the...