Genome analysis and knowledge-driven variant interpretation with TGex.

ABSTRACT:

Background

The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underlying a patient's phenotypes and symptoms. The adoption of Whole Genome Sequencing requires novel capacities for interpretation of non-coding variants.

Results

We present TGex, the Translational Genomics expert, a novel genome variation analysis and interpretation platform, with remarkable exome analysis capacities and a pioneering approach of non-coding variants interpretation. TGex's main strength is combining state-of-the-art variant filtering with knowledge-driven analysis made possible by VarElect, our highly effective gene-phenotype

SUBMITTER: Dahary D 

PROVIDER: S-EPMC6937949 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature