variant's prediction of pathogenicity

HI ! I’m wondering if there is an option to run pathogenicity prediction of genetic variants using the ACMG parameters. Thank you so much!

HI @Lucia1

For variant calling and annotation, please start with the tutorials here

then see the variant sections in other groups like this one.

If you want to share more details – maybe a publication or other protocol that you are trying to replicate? – we can try to help more.

Let’s start there. :slight_smile: