From: Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
Population, disease-specific, and sequence databases | |
Population databases | |
Exome Aggregation Consortium | |
1000 Genomes | |
dbSNP | |
Disease databases | |
ClinVar | |
OMIM | |
Human Gene Mutation Database | |
Leiden Open Variation Database | |
Sequence databases | |
NCBI Genome Source | |
RefSeqGene | |
In-silico predictive algorithms | |
Missense prediction | |
SIFT | |
MutationTaster | |
PolyPhen-2 | |
Splice site prediction | |
GeneSplicer | |
Human Splicing Finder | |
NetGene2 | |
NNSplice | |
Conservation scores | |
GERP | |
PhastCons | |
PhyloP |