In many types of cancer, there are different therapeutic strategies, some of which might work only for a specific subset of patients. Selecting the correct strategy for each patient, which is called Personalized Medicine, needs a precise look into the genome in order to identify somatic variations, such as insertions, deletions or mutations that are caused by cancer. Those variations can make a tumor resistant to some drugs, while permissive to other drugs.
The human genome comprises approximately 3 billion bases (A, C, G, and T). The major part of phenotypic diversity among different people originates in alternations in the genome. In many cases, mutation (substitution), insertion or deletion of a short fragment of the genome causes disorders. To uncover the secret behind such kinds of disorders, we can sequence the whole-genome using Next Generation Sequencing (NGS) technology.
About 85% of the disease-causing genomic alterations occur only in very smaller regions of the genome, consisting 1.7% of the whole genome. These regions, which are called Exons, contain the valuable information of producing proteins. A small variation in exons can cause disease by damaging the shape and the function of a specific type of protein that plays a critical role in the body. A more economic genomics test, which is called Whole-Exome Sequencing only focuses on those 1.7% part of the genome, and finds their sequence at higher coverage.
Thanks to a comprehensive analysis framework that integrates artificial intelligence with algorithmic and statistical methods, PardisGene provides a broad range of bioinformatics analysis services for both clinical and research purposes. The multi-disciplinary environment of PardisGene that consists of experts in biology, bioinformatics, medicine, software engineering, genetics, statistics, biotechnology, and machine learning enables us to look at the data from many different perspectives and discover innovative solutions.