Welcome to the Variant Filtering on Unrelated Samples Tutorial!ΒΆ

Updated: December 30th, 2016

Level: Advanced

Version: 8.6.0 or higher

Product: SVS

This tutorial covers a comprehensive workflow for filtering variants based on public annotations data, classifying variants according to position relative to a gene transcript, classifying variants according to the variants effect on the amino acid sequence, and visualizing variants of interest.

Requirements

  • To complete this tutorial you will need to download and unzip the following file, which includes a starter project that contains data from public 1000 Genomes Phase3 sample sequence data. As well as simulated phenotype information.
  • You will also need to download and install the add-on script Activate Variants by Genotype Count Threshold which you can find on our scripts repository web page along with instructions for installing in the appropriate directory for use in SVS.