Custom ACMG Classifications

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The ACMG classification we implement in VarSome Clinical, is a scoring system of rules based on the ACMG Guidelines.

When you inspect the ACMG tab on the Variant Table page, you can find several available options. If you click on the Screenshot from 2019-11-29 14-19-16.png in any of the triggered rules' boxes, you will see a pop-up with the definition of the rule and the reason it was triggered for each variant. Further information on our ACMG implementation could be found here.
You can also check or uncheck any criteria and modify the default verdict and by clicking on the button you can save the verdict you wish, to view in other analyses that include the variant (more info here). 
Moreover, you can define your preferred transcript for annotation of each gene on a global level. For further detail on how to set custom transcript(s) for annotation please see here.

VarSome Clinical

VarSome Clinical is a clinically-certified platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels. VarSome Clinical helps molecular geneticists and clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions.

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