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.

Posted by Juan M. Corchado

Juan Manuel Corchado (15 May 1971, Salamanca, Spain) is Professor at the University of Salamanca. He has been Vice-Rector for Research from 2013 to 2017 and Director of the Science Park of the University of Salamanca. Elected as Dean of the Faculty of Science twice, he holds a PhD in Computer Science from the University of Salamanca and a PhD in Artificial Intelligence from the University of the West of Scotland. He leads the renowned BISITE (Bioinformatics, Intelligent Systems and Educational Technology) Research Group, created in 2000. Director of the IoT Digital Innovation Hub and President of the AIR Institute, J. M. Corchado is also Visiting Professor at the Osaka Institute of Technology since January 2015, Visiting Professor at the Universiti Malaysia Kelantan and Member of the Advisory Group on Online Terrorist Propaganda of the European Counter Terrorism Centre (EUROPOL). J. M. Corchado has been president of the IEEE Systems, Man and Cybernetics Society, and academic coordinator of the University Institute for Research in Art and Animation Technology at the University of Salamanca, as well as researcher at the Universities of Paisley (UK), Vigo (Spain) and the Plymouth Marine Laboratory (UK). He currently combines all his activity with the direction of Master programmes in Security, Digital Animation, Mobile Telephony, Information Systems Management, Internet of Things, Social Media, 3D Design and Printing, Blockchain, Z System, Industry 4.0, Agile Project Management, and Smart Cities & Intelligent Buildings, at the University of Salamanca and his work as editor-in-chief of the journals ADCAIJ (Advances in Distributed Computing and Artificial Intelligence Journal), OJCST (Oriental Journal of Computer Science and Technology) or Electronics MDPI (Computer Science & Engineering section). J. M. Corchado mainly works on projects related to Artificial Intelligence, Machine Learning, Blockchain, IoT, Fog Computing, Edge Computing, Smart Cities, Smart Grids and Sentiment Analysis. He has recently been included in the board of trustees of the AstraZeneca Foundation, along with other health professionals and researchers recognised for bringing scientific knowledge closer to society.