Hello,
I am interested in using AlphaGenome to predict the effects of SNPs on gene expression in disease. I am therefore looking at the effect of multiple SNPs across specific tissue types on single genes.
I am wondering whether there is a good way of aggregating raw scores so that there will be an individual raw score for each gene. My current approach is:
- Identify SNPs that have a significant impact on gene expression by identifying those with raw scores 2SD from the mean.
- Averaging raw scores across the different specific tissue types i.e. colon tissues
- Summing the raw scores of the SNPs that affect the same gene
I understand I could use the quantile score to do weighted sums of the raw scores but I want to be able to compare to real gene expression data, so I don’t want to change the ‘true value’ based on weight.
Please let me know if this would work or if there is a better way of doing this.
Thanks!