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 de Mayo de 1971, Salamanca, España) Catedrático en la Universidad de Salamanca. Ha sido Vicerrector de Investigación desde el 2013 hasta el 2017 y Director del Parque Científico de la Universidad de Salamanca. Elegido dos veces como Decano de la Facultad de Ciencias, es Doctor en Ciencias de la Computación por la Universidad de Salamanca y, además, es Doctor en Inteligencia Artificial por la University of the West of Scotland. Dirige el Grupo de Investigación Reconocido BISITE (Bioinformática, Sistemas Inteligentes y Tecnología Educativa), creado en el año 2000. Director del IOT Digital Innovation Hub y presidente del AIR Institute, J. M. Corchado también es Profesor Visitante en el Instituto Tecnológico de Osaka desde enero de 2015, Profesor visitante en la Universiti Malaysia Kelantan y Miembro del Advisory Group on Online Terrorist Propaganda of the European Counter Terrorism Centre (EUROPOL). J. M. Corchado ha sido presidente de la asociación IEEE Systems, Man and Cybernetics, y coordinador académico del Instituto Universitario de Investigación en Arte y Tecnología de la Animación de la Universidad de Salamanca e investigador en las Universidades de Paisley (UK), Vigo (Spain) y en el Plymouth Marine Laboratory (UK). En la actualidad compagina toda su actividad con la dirección de los programas de Máster en Seguridad, Animación Digital, Telefonía Movil, Dirección de Sistemas de Información, Internet de las Cosas, Social Media, Diseño e Impresión 3D, Blockchain, Z System, Industria 4.0, Gestión de Proyectos Ágiles y Smart Cities & Intelligent Buildings​, en la Universidad de Salamanca y su trabajo como editor jefe de las revistas ADCAIJ (Advances in Distributed Computing and Artificial Intelligence Journal), OJCST (Oriental Journal of Computer Science and Technology) o Electronics MDPI (Computer Science & Engineering section). J. M. Corchado desarrolla principalmente trabajos en proyectos relacionados con Inteligencia Artificial, Machine Learning, Blockchain, IoT, Fog Computing, Edge Computing, Smart Cities, Smart Grids y Análisis de sentimiento.

Thanks for your comment

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.