Lucia1
1
HI ! I’m wondering if there is an option to run pathogenicity prediction of genetic variants using the ACMG parameters. Thank you so much!
jennaj
2
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. 