Fig. 3: Genetic variation affecting splice-site choice is often near the splice-site and high resolution SpliSER-GWAS allows inferring the best nucleotides that promote splicing.
From: A basic framework to explain splice-site choice in eukaryotes
Distribution of the distances of the highest associated SNPs (lowest p-value) detected in SpliSER-GWAS for donors (A) and acceptors (B) in Arabidopsis, Drosophila and Humans. Intronic regions are shaded for clarity. The distribution of splice-promoting allelic variation for positions −2 to +6 around the splice-donor site and −6 to +2 around the splice-acceptor site based on associations from all three species, considering GWAS where the Top SNP and the closest SNP are the same. Most frequent splice-promoting nucleotides are highlighted.
