Through the Mass Sequencing Unit, the Genomic Medicine Group has implemented protocols for sequencing exomes and sequencing guided by panels of selected genes. Regarding the analysis of the data generated in the platforms, automated analysis of pipelines have been developed to carry out the mapping of the readings generated in the sequencers, detection of variants and notes thereof.
In the Sequencing Unit, the group has several new generation Ion PGM and Ion Proton sequencers, and soon an Illumina NextSeq. A system of isolation of pure cellular populations or single cells, the DEPArray System (Silicon Biosystems), along with an AutoMACS Pro Separator (Miltenyi Biotec) for the previous enrichment of CTCs, is added to this equipment.
In addition to the usual media and technologies in a genetics laboratory, we have separate rooms for DNA extraction, and PCR and post-PCR processing of the samples. Most of the processes, and especially the preparation of libraries for NGS, are automated through the use of robots: Chemagen for DNA extraction, 2 QIAcube, 2 Freedom Evo robots with 8 and 96-point heads (Tecan), 1 Aquarius robot with 96-point head (Tecan) and 2 NX robots (Beckman). In addition, the research team has real-time PCR equipment (StepOnePlus and QuantStudio 12K) and an automatic 96 capillary sequencer 3730xl DNA Analyzer (Applied Biosystems).
For the accomplishment of these tasks the Sequencing Unit has two doctors, one of them a Bioinformatics specialist, two graduates in Biology, and three Laboratory Superior Technicians.
The genomic data generated will undoubtedly boost international leadership in the generation of cutting-edge knowledge, the development of emerging technologies and the generation of priority knowledge aimed at solving the present and future needs of our society, such as the implementation of a Personalized Medicine and an efficient cost.