Predicting whether a variation in Splice Site is pathogenic with an ensemble of alternative splicing site predictors.
- Given
chromosome
andpos
, predict the scores of its probability of being a 9-bp 5' splicing site and a 16-bp 3' splicing site by sliding 9-bp and 16-bp windows centered by thispos
. - Given
alt
, predict the scores of all potential splicing sites from the previous step. - Calculate the delta of scores.