Projects per year
High-throughput sequencing methods are generating enormous amounts of genomic data, giving unprecedented insights into human genetic variation and its relation to disease. An individual human genome contains millions of Single Nucleotide Variants: to discriminate the deleterious from the benign ones, a variety of methods have been developed that predict whether a protein-coding variant likely affects the carrier individuals health. We present such a method, DEOGEN2, which incorporates heterogeneous information about the molecular effects of the variants, the domains involved, the relevance of the gene and the interactions in which it participates. This extensive contextual information is non-linearly mapped into one single deleteriousness score for each variant. Since for the non-expert user it is sometimes still difficult to assess what this score means, how it relates to the encoded protein, and where it originates from, we developed an interactive online framework (http://deogen2.mutaframe.com) to better present the DEOGEN2 deleteriousness predictions of all possible variants in all human proteins. The prediction is visualized so both expert and nonexpert users can gain insights into the meaning, protein context and origins of each prediction.
Bibliographical note© The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.
IRP8_a: IMAGica: an Integrative personalised Medical Approach for Genetic diseases, Inherited Cardiac Arrhythmias as a model
1/07/16 → 30/06/21