Genetic diseases are a reflection of our genome, identifying the exact mutation will allow to analyse it in depth and, therefore, find an appropriate treatment for each case. Major advances in DNA studies and precision medicine have given rise to Next Generation Sequencing (NGS), which is based on technologies designed to analyse large amounts of DNA at a lower cost.
Advances in the tools that process sequenced DNA samples make it possible to obtain a set of genetic variants or mutations, providing specialists and researchers with precise data and facilitating the diagnosis of diseases.
The main advantage of Next Generation Sequencing over previous methods is the parallelization and high performance in reading millions of short DNA fragments which are generated simultaneously, obtaining the expected sequence within reasonably short times depending on the size of the genome (note that prior to NGS, the human genome could only be sequenced with classical methods that were very complex and took more than 10 years to complete), as Víctor Manuel Duarte Rute, researcher at the BISITE group, explained in an interesting article on Next Generation Sequencing.
In clinical practice, NGS facilitates the diagnosis of diseases with high genetic heterogeneity. However, the amount of sequenced data requires high processing, storage and analysis capacity. To meet this need, platforms have been developed to help classify, explore and obtain optimal results of biological value.
Solutions such as DEEPNGS Next Generation Sequencing, developed by DCSc, in collaboration with AiR Institute and the BISITE group, enable the rapid analysis of genomic data with explicit and complete information, incorporating the latest advances in biomedicine. DEEPNGS can be adapted to the needs of each type of study. The platform also incorporates technologies such as Artificial Intelligence and Machine Learning which increase the chances of obtaining a successful diagnosis and treatment.