Analysis of a SNPs moderating effect on disease

Question

[RNAseqer]

I am looking to analyze a set of SNPs for potential moderating effects on disease but am unfamiliar with the technique. Does anyone have a good example publication or pipeline they would be willing to share a link to? Many thanks!

Answer 1

[colindaven]

This approach looks fascinating (looks like you need FASTA as input). https://github.com/bernardo-de-almeida/DeepSTARR

Google deepmind has also come out with something (far less open source AFAIK) recently called Enformer.