Online Resources

Varsome

 https://varsome.com/ Varsome is a database that provides information about genetic variations and their relationships to human health. It is a resource for researchers, clinicians, and other professionals who are interested in understanding the role of genetic...

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Software and Tools (ConSurf)

The ConSurf server is a bioinformatics tool for estimating the evolutionary conservation of amino/nucleic acid positions in a protein/DNA/RNA molecule based on the phylogenetic relations between homologous sequences.The degree to which an amino (or nucleic) acid...

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Software and Tools (PolyPhen-2)

PolyPhen-2is an automatic tool for prediction of possible impact of an amino acid substitution on the structure and function of a human protein. This prediction is based on a number offeatures comprising the sequence, phylogenetic and structural information...

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Helpful Databases – Descriptions and Links

ClinVar ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and...

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