I have had the opportunity to give a guest lecture “Next Generation Sequencing: an exciting challenge!” as part of the Genomic Medicine Conference, which has been held at Expo 2020 Dubai some time ago.  An event organized by the United Arab Emirates University and the Government of Australia.

During the keynote, I talked about our work in this field and the deepngs.eu tool, a powerful platform that can now also be installed on local servers or in on-premises mode with our product Pegasus.

In addition to presenting this platform, I spoke about the importance of integrating the results of genomic analyses with those provided by Transcriptomics and Epigenetics. We are already working in these areas.

Next generation sequencing techniques

Also known as massively parallel or deep sequencing, Next Generation Sequencing (NGS) techniques have revolutionized current genomic research. The use of the latest technologies in NGS (cloud computing, artificial intelligence, machine learning) allows for the sequencing of entire human genomes in a single day. Previous conventional Sanger technologies took more than a decade to complete this process.

However, NGS has not become an everyday clinical practice just yet. End-user applications must meet the real needs of every physician, every lab technician, every DNA analysis lab, every researcher…. And there are plenty of pipelines and multiple data sources that can be used depending on those needs.

DeepNGS is a fast, automated platform for clinicians and researchers. It processes sequenced human DNA samples and obtains a set of key genetic variants for the clinical diagnosis of any patient.

Our platform incorporates all the patient’s genetic data in a highly secure cloud environment and achieves a higher level of accuracy. It is able to digest the information to ensure the accuracy of the final diagnosis and the appropriateness of treatment recommendations. We progressively incorporate ML algorithms to optimize the analysis process and achieve even better and more reliable results. Random Forests

The result is a set of detected variants, they can be single nucleotide variations (SNVs) or INDELs and structural variants. The platform also distinguishes germline variants from somatic variants, which are characteristic of tumor cells and whose correct detection is essential in the diagnosis and treatment of this type of disease.

Once the alignment, variant detection and annotation stages have been completed, the intuitive DeepNGS interface provides an overview and a wealth of visualizations from which conclusions can be drawn immediately.

In the picture: Prof. Dr. Fatima Al Jasmi from UAEU, Prof. Dr. Modh Saberi Mohamad from UAEU and Prof. Dr. Moeen AlSayer from Al Faisal University, KSA de Arabia Saudí.

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.

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