There are over 100,000 genetic mutations in approximately 7,000 genes associated with rare inherited diseases. In the diagnosis of rare genetic disorders the aim is to identify the underlying mutation/s of the specific symptoms exhibited in a patient.
The main hurdle is the vast amount of variants to explore, which is the standard output of the sequencing process of any individual.
Using comprehensive biomedical and clinical data in the GeneCards Knowledgebase, TGex automatically ranks variants based on their association with any biological or clinical term, and automatically provides the evidence required to assist in the examination and evaluation of the results.
Thus, TGex is able to significantly reduce the analysis time spent on identification of causal variants, and offer comprehensive knowledge-driven reports at a click of a button, that automatically include relevant evidence and publications.
Identifying causal mutations in genetic disorders drives genetic counselling for the family, clearer and more accurate diagnosis and prognosis of clinical conditions, and can also assist in finding potentially life-saving new treatments.