Edoardo Abate

For Information relating to products, please consult our tehcnical documents page: https://www.sophiagenetics.com/support/

AlamutTM Visual Plus currently uses Genome Aggregation Database Version 2.1 for GRCh37/hg19 genome build. The link to this version of gnomAD is: https://gnomad.broadinstitute.org/variant/1-55516888...

gnomAD data are displayed in the Allele Frequency Databases track. Right-clicking on the variant of interest reveals the variant panel with details from gnomAD shown in a box within Alamut™ Visual ...

There could be multiple reasons for a delay.1) You may have closed your PC before the upload was completed, logged out of your account or removed the files from their original saved location. When ...

The most common reason is that your Proxy or Firewall is blocking the SOPHiA GENETICS servers. This can be easily fixed by your IT department by updating your firewall rules to allow access to all ...

In the SOPHiA DDM™ Platform, the Coverage Calculator shows the worst-case minimum coverage among all the transcripts. If 0 coverage is observed for some transcripts in a gene, the entire gene is li...

There are several reasons why the SOPHiA DDM™ Platform may classify a variant as “low-confidence”.1. The variant may occur in a low complexity region (e.g. homopolymers or heteropolymers). Such reg...

This filter is designed to reduce the number of false positive (FP) variant calls and avoid false negatives (FN) in homopolymer regions on IonTorrent platforms. It works by distinguishing systemati...

The Variant Database Browser (VDB) can be filtered according to various pre-set parameters such as:– Chromosome number– Genomic position– Gene name– Specific position of cDNA or protein annotations...

The BDS number can be found at two different locations:On the side sticker of Box 1 of the SOPHiA GENETICS Bundle Solution (-15 °C to -25 °C storage temperature)In the annex of the delivery noteFor...