Table 1.
Bioinformatics tool | Web address |
---|---|
Annotation of variants | |
Ensembl API | http://rest.ensembl.org/ |
Alamut Batch | http://www.interactive-biosoftware.com/alamut-batch/ |
| |
Functional consequences of mutations | |
Alamut | http://www.interactive-biosoftware.com/software/alamut/overview |
Polyphen 2 | http://genetics.bwh.harvard.edu/pph2/ |
SIFTs | https://www.ebi.ac.uk/pdbe/docs/sifts/ |
Align-GVGD | http://agvgd.iarc.fr/agvgd_input.php |
MutationTaster | http://www.mutationtaster.org/ |
SpliceCenter | http://projects.insilico.us/SpliceCenter/SpliceOverview.jsp |
MutationAssessor | http://mutationassessor.org/v1 |
| |
Structural consequences of mutations | |
PredictProtein | https://www.predictprotein.org/ |
MutDB | http://www.mutdb.org |
| |
Large sequencing datasets | |
1000 genomes browser | http://www.1000genomes.org/ |
Exome variant server | http://evs.gs.washington.edu/EVS/ |