Links

Useful Resources :
> gnomAD (Genome Aggregation Database, offering exome sequences from 123,136 individuals) PUBMED
> CADD (Combined Annotation Dependent Depletion) PUBMED
> EIGEN (Integrated Functional Genomic Annotations for Coding and Noncoding Variants) PUBMED
> LINSIGHT (Prediction of Deleterious Noncoding Variants from Evolutionary Model) PUBMED
> SIFT (Predict Effects of Coding Non-Synonymous Variants on Protein Function) PUBMED
> PolyPhen2 (Predict Impact of a Variant on Protein Structure and Function) PUBMED
> DDIG (Detect Disease-Causing Genetic Variations due to Indels, Nonsense and Synonymous Mutations) PUBMED
> MSC (Mutation Significance Cutoff) PUBMED
> UCSC LiftOver (Convert Genome Coordinates Between Assemblies)
> Ensembl Database (Genome Information)
> UniProt Database (Protein Information)
> GO Slim (A Subset of GO Ontologies, Particularly for Annotating Genome)
> OMIM (Online Mendelian Inheritance in Man)