Genetic variants alter cellular behavior in a variety of ways, changing biochemical properties of DNA, mRNA, and proteins. Many large-scale sequencing projects are under way to detect human variation in health and disease. Although broad disease associations can be discovered by GWAS studies, the low-level impact of mutations is hardly available in structured form. The results of thousands of small-scale experiments, on the other hand, are present in the literature and discuss observations made ranging from alteration of active sites to changes in drug response resulting.
Our aim is to bridge the gap between detection of genetic variants and their annotation with aforementioned observations. VarImpact extracts experimentally observed changes from the literature. This allows to annotate sequencing results with observed impacts, gather information about the mutational landscape observed in disease populations, and to study disease mechanisms.
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