Welcome to the VarSeq VSClinical ACMG Trio Tutorial!ΒΆ


Updated: April 1st, 2020

Level: Intermediate

Product: VarSeq

This tutorial covers a basic VSClinical ACMG Trio workflow with an emphasis on understanding and exploring the trio filter logic and VSClinical ACMG classification tools.


To complete this tutorial you will need to download and unzip the following file, which includes sample trio data to analyze in the project. This file is a multi-sample VCF file with Proband (NA12940), Mother (NA12938), and Father (NA12939).


The majority of the workflow described in this tutorial requires VarSeq with the VSClinical ACMG algorithm. You can go to Discover VarSeq and request a viewer or evaluation license.


VarSeq version 2.2.1 was used to create this tutorial. While every attempt will be made to keep this content relevant, it is possible that certain features or icons may change with newer releases.