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Functional and Genomic Databases

These tools or resources are widely used to determine functional regions or elements in the human genome.

REVEL

Provide pre-computed REVEL scores for all possible human missense variants to facilitate the identification of pathogenic variants in the sea of rare variants.

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Combined Annotation Dependent Depletion (CADD)

A tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome

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ENCODE Project

A comprehensive list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active

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GREAT

A tool to assign biological meaning to a set of non-coding genomic regions by analyzing the annotations of the nearby genes

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JASPAR

An open-access database containing a curated, non-redundant set of profiles, derived from published collections of experimentally defined transcription factor binding sites for eukaryotes

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Human Protein Complex Map (Hu.Map)

The hu.MAP integrates several large scale protein interaction datasets to obtain the most comprehensive view of protein complexes.global map of human protein complexes

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Mendelian Clinically Applicable Pathogenicity (M-CAP) Score

A pathogenicity classifier for rare missense variants in the human genome that is tuned to the high sensitivity required in the clinic

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PolyPhen-2

A tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations

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Regulatory Elements Database

Patterns of regulatory activity across diverse human cell types using the data from hundreds of DNaseI-hypersensitivity and Affymetrix microarray experiments

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RegulomeDB

A database that annotates SNPs with known and predicted regulatory elements in the intergenic regions of the human genome

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Open Targets Platform

A data integration and visualization platform that provides evidence about the association of known and potential drug targets with diseases

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SIFT

A tool which predicts whether an amino acid substitution affects protein function, based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences

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STRING 9.1 Database

A database of known and predicted protein-protein interactions

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