High-throughput sequencing and genetic diseases
Program Overview
Introduction to the University Program
The University Program in question is the "DU Séquençage haut débit et maladies génétiques" (High-Throughput Sequencing and Genetic Diseases) offered by the Unité Mixte de Développement Professionnel Continu Santé (UMDPCS).
Program Overview
Description
The program focuses on high-throughput sequencing, a revolutionary technology in genetics that enables the automated decoding of nucleotides from the human genome. It aims to provide participants with the knowledge and skills necessary to utilize this methodology and its applications in the context of diagnosing genetic diseases, with a particular emphasis on data quality in a medical laboratory setting and the ethical considerations surrounding high-throughput sequencing for result interpretation and delivery.
Objectives
- Identify bioinformatics tools used for treating raw data, identifying genetic variations, and interpreting results.
- Use the Unix/Linux system, command line, and manage and analyze data on a remote server.
- Utilize primary software dedicated to high-throughput sequencing data analysis, from aligning raw sequences to annotating genetic variations.
- Master key browsers, databases, and prediction tools commonly used in human and medical genetics.
Program Structure
Organization
The program consists of 105 hours of teaching over one academic year, divided into:
- 5 modules of 21 hours (3 days) each, held in person at the UFR des Sciences de Santé, Dijon.
Content
The 5 modules cover:
- High-throughput sequencing - technologies and applications (theoretical)
- Introduction to Linux and programming (practical)
- Analysis of high-throughput sequencing data (practical)
- Databases, in silico prediction tools, and in-depth analyses (practical and theoretical)
- High-throughput sequencing and diagnosis - application examples, quality, result delivery, and ethical considerations (theoretical)
Target Audience
The program is designed for:
- Geneticists
- Molecular biology medical doctors
- Human/medical genetics engineers
- Post-doctoral students and interns in these disciplines
Validation and Intervenants
Validation
The program is validated through a written exam. Participation in all teachings is mandatory.
Intervenants
The program is led by:
- M. Yannis DUFFOURD, Research Engineer in Bioinformatics, CHU Dijon, INSERM U1231
- Pr Christel THAUVIN-ROBINET, Professor of Universities - Hospital Practitioner, Genetics Center, Children's Hospital, CHU Dijon Bourgogne
Additional Information
Tuition Fees
- Administrative fees: as defined annually by the CA of the UB / the Ministry
- Pedagogical fees: 1100
This program is part of the Unité Mixte de Développement Professionnel Continu Santé (UMDPCS), which is an antenna of the SEFCA (Service Commun de Formation Continue et par Alternance) dedicated to the health and continuing professional development sector. The UMDPCS is listed in the public list of training organizations certified QUALIOPI or equivalent.
