AACDS: A database for personal genome interpretation

Thanawadee Preeprem, Greg Gibson

Abstract


Incorporation of diverse data sources adds value to genomic studies, especially for annotation and categorization of personal genome variants. The database for Association-Adjusted Consensus Deleterious Scheme (AACDS) and its web application deliver a novel approach to assess genetic variations based on their putative functionality. The database is built upon integrated knowledge of variant data, with the aim of relating clinical phenotypes to predictions of variant deleteriousness. The simple but interrelated queries classify each variant into an 8-level category. The categories can be ranked, enabling straight-forward interpretation of relative likelihood of functionality. The ranking thus facilitates improved efficiency in prioritizing further detailed evaluation of key variants within a personal genome. The AACDS database covers over 68 million missense variants in approximately 18,000 human genes. Given a list of genetic variants, the retrieval of the AACDS category, along with known clinical data can be performed through an intuitive search platform.  

Availability: The AACDS web application is publicly available at http://cig.gatech.edu/tools.


Keywords


association-adjusted consensus deleterious scheme (AACDS); nonsynonymous single nucleotide polymorphism (nsSNP); personal genome interpretation; database; web application

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DOI: http://dx.doi.org/10.14806/ej.20.0.780

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