Functional Prediction

New sequencing techniques has dramatically increased the data available for genomic research. Especially useful these new techniques (like re-sequencing) have been in mapping and detecting CNVs and other genome structural variants where they have made the difficult analysis more feasible and less error prone. Several computational methods have been developed which rely on these new technologies. In other study aspects, like predicting the disease susceptibility of missense mutations, effect of mutations affecting mRNA splicing and epistatic effects of several mutants, a different kind of need has rised. Increasing efforts have been dedicated to find the relevant, disease causing, mutations in the large amount of data available currently. This has led to the vast amount of new methods which aim to solve the problem of predicting which mutations have effect on disease risk. The purpose of the group is to provide concise information on pathogenicity prediction tools, methods and services.