DES-Mutation: System for Exploring Links of Mutations and Diseases.

ABSTRACT: During cellular division DNA replicates and this process is the basis for passing genetic information to the next generation. However, the DNA copy process sometimes produces a copy that is not perfect, that is, one with mutations. The collection of all such mutations in the DNA copy of an organism makes it unique and determines the organism's phenotype. However, mutations are often the cause of diseases. Thus, it is useful to have the capability to explore links between mutations and disease. We approached this problem by analyzing a vast amount of published information linking mutations to disease states. Based on such information, we developed the DES-Mutation knowledgebase which allows for exploration of not only mutation-disease links, but also links between mutations and concepts fro

SUBMITTER: Kordopati V 

PROVIDER: S-EPMC6127254 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature