Search Results for "impact"

...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. ...