Table 2.
Algorithms for Computational Prediction of Functional Impact of Sequence Variant/Splice Site Changes
| Utility/function | Algorithm/software | Location (web address) |
|---|---|---|
| Missense SNV | PolyPhen237 | http://genetics.bwh.harvard.edu/pph2 |
| SIFT38 | http://sift.jcvi.org | |
| MutationAssessor39 | http://mutationassessor.org | |
| MutationTaster41 | http://www.mutationtaster.org | |
| PROVEAN45 | http://provean.jcvi.org/index.php | |
| Condel46 | http://bg.upf.edu/blog/2012/12/condel-for-prioritization-of-variants-involved-in-hereditary-diseases-and-transfic-for-cancer | |
| CoVEC40 | https://sourceforge.net/projects/covec/files | |
| CADD47 | http://cadd.gs.washington.edu | |
| GERP++48 | http://mendel.stanford.edu/sidowlab/downloads/gerp/index.html | |
| PhyloP and PhastCons49 | http://compgen.bscb.cornell.edu/phast | |
| Splice site prediction | Human Splicing Finder42 | http://www.umd.be/HSF3 |
| MaxEntScan43 | http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html | |
| NetGene244 | http://www.cbs.dtu.dk/services/NetGene2 | |
| NNSplice50 | http://www.fruitfly.org/seq_tools/splice.html | |
| GeneSplicer51 | http://www.cbcb.umd.edu/software/GeneSplicer/gene_spl.shtml |
These are not comprehensive lists, and inclusion does not represent an organizational endorsement of any individual database or product. All websites last accessed June 7, 2016.
SNV, single-nucleotide variant.