The CORE Molecular Biology Operational Area is a cross-disciplinary area that responds to the molecular biology needs of the other CDB services. The healthcare activity is organized into the following technological platforms:

• Nucleic acid extraction. This platform carries out the automated extraction of nucleic acid from biological samples such as peripheral blood, microbiological samples, saliva, cells, etc. It extracts both DNA and RNA.
• Sanger sequencing and fragment analysis. It automatically amplifies and sequences around 2,500 different amplicons corresponding to around 290 genes. It uses M13 universal primers, a Tecan robotic platform, which integrates three aliquoting robots and Applied Biosystems capillary electrophoresis genetic analysers.
• Nucleic acid expression and genotyping. It uses genomic technologies for quantitative gene expression analysis and genotyping from different types of sample. It has platforms such as the NanoString nCounter system, real-time PCR systems (OneStep and Cobas) and digital PCR (QuantStudio Absolute Q).
• Massive parallel sequencing (NGS). This platform enables the analysis of exomes and the sequencing of gene panels associated with hereditary diseases, tumour tissue or microbiome analysis, etc. It uses Ion Torrent and Illumina sequencing technologies.
• Bioinformatics. This platform develops specific pipelines and analyses data generated with massive parallel sequencing (NGS) or gene expression technologies obtained in the laboratory.

Currently, around 28,000 nucleic extractions are performed annually, and over 300 different services are provided, mainly using massive parallel sequencing and Sanger sequencing. Of particular note is the whole exome sequencing, with over 1,000 exomes analysed in the last year.