At the end of this course, you will be able to:
The MOOC BiG "Introduction to BioInformatics and Genomic Medicine" aims to address all the bioinformatics aspects necessary for the production and interpretation of High-Throughput Sequencing (HTS) or Next Generation Sequencing (NGS) data within a clinical genetics laboratory with examples of rare diseases and oncogenetics.
This introductory course is primarily intended for health professionals using genomics. Its objective is to provide specific and adapted contents to enable them to understand the different steps from phenotyping to molecular diagnosis and to have a critical eye on the analyses while taking into account the pitfalls and limits of NGS. Designed by a French team, it will also present the functioning of the genomic pathway in France.
For the general public or the curious, the objective is to make them aware of a technique that plays an increasingly important role in the diagnosis of genetic diseases.
The MOOC will be self paced. Learners will have access to all the contents from the beginning. Each teaching unit will explore a step of NGS processing by focusing on different themes with videos in french subtitled in English, texts and self-correction exercises. Interactive content, such as python-based jupyter notebooks will permit us to go further in genome interpretation and programming.
As genomic medicine and NGS require a wide range of skills, we suggest you make your own path through the MOOC according to your profile and learning objectives.
- For the beginners, the introductive unit “Back to Basics” will guide you through the basics of genetics, bioinformatics and genomic medicine.
- Unit 1 sets the context and will be of interest to all learners, with the example of the French model.
- Unit 2 is at the crossroads between clinics, biology, bioanalysis and bioinformatics. It will be of interest to all those who will be prescribing or interpreting genetic results as well as bioinformatics pipeline designers.
- Units 3, 4 and 5 are increasingly focused on bioinformatics. Bioinformaticians will be in familiar territory, it may be more difficult for those who do not handle these tools on a daily basis.
In short, pick what you find most useful or follow the guide!
A forum is dedicated to online exchanges between learners and pedagogical team !
This MOOC is particularly aimed at health professionals, students or practicing physicians, for whom genetics is part of their daily work. This includes geneticists, genetic counsellors, bioinformaticians as well as non-geneticists physicians or other health professions who wish to broaden their skills.
In addition, it is also intended for the general public wishing to understand the bases of applied bioinformatics to genomic medicine and the medical interpretation of genetic variations.
It is recommended to have prior knowledge of human genetics to better benefit from the content of this course. To refresh your knowledge, a "back to basics" content will be available at the beginning of the MOOC!
This MOOC does not provide any academic certification for the moment. However, a certificate of completion of the MOOC will be issued if you obtain an average mark of 70% in the exams available at the end of each unit.
Certificates will be delivered approximately every 2 to 3 months.
European Reference Network for Malformative Syndromes and Neurodevelopmental Disorders
Digital University for Health studies, France
French Health Network for Developmental Disabilities of Rare Causes with or without Intellectual Disability
French Society of Predictive and Personalized Medicin
French Bioinformatics Network for Diagnostics
French National College of Teachers and Practitioners of Medical Genetics
Laboratory of Excellence in Medical Genomics (Programme "Investissement d'Avenir")
Jean Dausset Foundation - Centre for the Study of Human Polymorphism
National Centre for Research in Human Genetics (France)
Centre for Interdisciplinary Research (France)
Support service for innovative teaching methods and digital teaching at the Sorbonne Paris Cité Alliance (France)
Society of Franch Residents and Young medical Geneticists
University of Burgundy
European Network of Young Geneticists
Xavier DESPLAS (Director) and Alexis ROYNEAU (Assistant Director), CRI - MOOC Factory
Eric PAUL (Director), University of Burgundy
Fabien HOBART, Hugo LOPEZ and David PONTALIER (Instructional designer), CRI - MOOC Factory
Danielle CABRERA (Audiovisual engineer), Elise HERLICQ (Pedagogical adviser), and Ludivine ALVAREZ (Instructional designer), Alliance Sorbonne Paris Cité
Silvestre CUINAT, Nantes University Hospital
Xavier LE GUILLOU, Poitiers University Hospital
Laurie MORCILLO, Grenoble Alpes University Hospital
Eric RIBEREAU, SeqOne
You are free to:
Under the following terms:
You are free to:
Under the following terms: