The Dijon Bourgogne University Hospital high-throughput sequencing platform
The Dijon Bourgogne University Hospital high-throughput sequencing platform is equipped with two sequencers: a MiSeq (Illumina), funded by the rare diseases national plan 2 (PNMR2) and a NextSeq 500 (Illumina). The molecular biology laboratory equipment also includes a BioAnalyzer 2100 (Agilent), a Qubit fluorometer (Life Technologies), a sonicator (Bioruptor) and standard and qualitative PCR machines, as well as the necessary devices for preparing samples for high-throughput sequencing.
What kind of diagnostics ?
This is the only platform in France that performs high-throughput target sequencing on a number of genes responsible for syndromes entailing dermatological disorders and mosaic-activating genomic mutations (AKT1, PIK3CA, etc.). In the case of high-throughput exome sequencing, the raw sequencing data is not produced on the platform but is outsourced to a private service provider.
A data management server
The Labkey server is a secure data management web platform via which the challenge of monitoring operations in the molecular genetics laboratory can be addressed. It provides a stable, adaptable database that links patient clinical data, tracks samples for molecular genetics, and can also be used for following through on tests and tracking test results. The server also has data analysis and data sharing capabilities for enhancing comprehensive patient follow-up.