The Genomics unit currently has four platforms featuring the following technology:
a. Nucleic acid extraction platform:
- 2 DNA extractors (Bio-Robot EZ-1, Quiagen) located in the genetics laboratory, 2nd floor, and the shared-use immunology laboratory, 4th floor.
- 2 rapid quantitative PCR systems (7500 and 7500 Fast Real-Time PCR, Applied Biosystems) located in the shared-use Room-Lab, 4th floor.
- 1 LightCycler 96 (Roche) system located in the shared-use Room-Lab, 4th floor.
- 1 automated 16-capillary sequencer (3130xl Genetic Analyzer, Applied Biosystems) located in the genetics laboratory, 2nd floor.
c. Massive-throughput sequencing platform
- 2 massive sequencers (NextSeq500 (Illumina) and GS Junior (Roche)) located in the genetics laboratory, 4th floor.
d. Array platform
- 1 hybridization oven and 1 SureScan array reader (Agilent) located in the genetics laboratory, 4th floor.
e. Digital PCR platform:
- 1 digital PCR (QX-200, Bio-Rad) located in the genetics laboratory, 4th floor.
The unit makes the following contributions:
- Integrate aspects of basic research (functional genomics) with more translatable goals such as developing, validating, and harmonizing diagnostic techniques and searching for therapy targets.
- Identify the genes involved in diseases and the ways in which these genes interact with environmental factors, all with the goal of increasing the precision, personalization, and effectiveness of diagnosis and treatment.
- Use monitoring systems to assess disease severity.
- Identify new genes/loci implicated in inherited human diseases with a view to defining more sensitive and efficient diagnostic algorithms in order to produce appropriate genetic characterization and genetic counseling.
- Expand knowledge of epidemiology, the causes and mechanisms involved in the development of rare diseases.
- Implement next-generation sequencing (NGS) technology, validating its analytical and clinical performance and developing new diagnostic algorithms that may be applied to heterogeneous or complex genetic pathologies.