Revisiting the Five Splice Site Algorithms used in Clinical Genetics
![](https://www.goldenhelix.com/blog/wp-content/uploads/2018/01/gene-mutation-176x176.jpg)
Interpretation of variants in accordance with the ACMG guidelines requires that variants near canonical splice boundaries be evaluated for their potential to disrupt gene splicing [1]. The five most common tools for splice site detection are NNSplice, MaxEntScan, GeneSplicer, HumanSplicingFinder, and SpliceSiteFinder-like. Because these algorithms have been made easily accessible in the bioinformatics tool Alamut, they have been canonized for… Read more »