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TERATEC 2017 Forum
Workshop 2 - Wednesday, June 28 from 9h00 to 12h30
Health - Perspectives for Personalized Medicine in 2025

Human genetic challenges at the NGS era
Christophe BEROUD, PU-PH dans le laboratoire de Génétique Moléculaire à l'APHM. Directeur de l'équipe de recherche "Génétique et Bioinformatique" de l'INSERM UMR_S 910

Abstract : High-throughput sequencing technologies are now fundamental for the identification of disease-causing mutations in human genetic diseases both in research and clinical testing contexts. It is thus now possible to generate the full sequence of an individual at 30X (100 billions of data) in 3 days for few thousands $. More than 1,000 genes have been identified between 2010 and 2014 thanks to the early adoption of Whole Exome Sequencing (WES) technologies. However, despite this encouraging figure, the success rate of clinical exome diagnosis remains low (between 23% and 26%). It is due to several factors such as technical factors, mutation types, bioinformatics suite of tools and methods used to generate VCF files, and wrong variant annotation and non-optimal filtration practices.

In this presentation, I will describe the challenges and promises of new high throughput sequencing technologies; discuss the critical steps of the variants' annotation and filtration processes to highlight a handful of potential disease-causing mutations for downstream analysis; and finally, demonstrate how this could lead to the development of new therapeutic avenues.

Biography : Professor Christophe Béroud (PharmD, PhD) has 27 years' experience in research laboratories and is an expert in bioinformatics and molecular biology. He is the creator of the UMD system as well as multiple databases and software, including Human Splicing Finder (HSF) and UMD-Predictor, to process and analyse NGS data. He has published 130 international papers (h-index=43) and has 5 patents. He is/was involved in multiple national and international committees and is/was the INSERM scientific team leader of various EU projects including RD-Connect.

He is full professor of Human Genetics in the Molecular Genetics Laboratory of the Aix Marseille University (AMU) and the APHM Hospital, head of the "Genetics and Bioinformatics" research team (INSERM UMR_S910), expert for the French Ministry of Research and Health and the European Commission, member of the Scientific committee of the Human Genome Variation Society (HGVS), member of the CSS2 at INSERM and communicating editor of the Human Mutation journal and member of the "Big data" committee at AMU.

He has contributed to oncogenetics with the development of international reference databases for TP53, BRCA1/2 and MMR genes; prenatal diagnosis of rare diseases with the development of the ISET technology to isolate and study circulating foetal cells; identification of disease-causing mutations in the NGS context with the creation of most efficient in silico pathogenicity prediction systems; and to the diagnosis of rare disease (national expert centre for the diagnosis of congenital muscular dystrophies and dystonia).

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Find the technical workshops of the TERATEC Forum on the theme of HPC in health and download the presentations

Teratec 2016 Forum : HPC technologies and applications in the healthcare sector

Teratec 2014 Forum : HPC and Healthcare: From therapeutic research to personalized medicine

Teratec 2013 Forum : HPC in Biology and Health

For any other information regarding the workshops, please contact :

Jean-Pascal JEGU
Tel : +33 (0)9 70 65 02 10
2, rue de la Piquetterie


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