When clustering genetic variation caused by 19,528 variants in novel GT/AG splice sites from PNIs confirmed by >150 individuals according to the effects on splicing, we find amongst the variant groups a ranking similar to the one of splice sites annotated in the Gencode reference, but with highly significant shifts towards fewer neutral (p-value ~ e-30, Fisher Exact test) and weakening (p-value ~ e-29), but more enhancing (p-value ~ e-125), activating variants (p-value ~ e-65, Fig. 2f ).
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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
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