The aim of the Genomics Unit is to provide researchers with cutting-edge equipment as well as with scientific and technical advice for the development of various analytical techniques used in the comprehensive study of DNA and RNA. This allows researchers to obtain high-quality results for the development of outstanding translational biomedical research.
The unit offers its services to researchers both at IMIBIC and other public and private institutions. The Genomics Unit collaborates closely with other Research Support Services, such as Bioinformatics, Proteomics and Cytometry.
Coordinator. Senior Technical Specialist
Lab Technician
MiSeq is an Illumina platform sequencing technology based on SBS (sequencing by synthesis), which is currently the most widely adopted NGS (next-generation sequencing) technology in the world on account of its speed, accuracy, and quality. This sequencer can generate up to 15 Gb/run and can perform 2x300bp paired-end reads, leading to greater accuracy, especially in problematic areas such as the ones involving homopolymers. The MiSeq system allows researchers to perform DNA-Seq, RNA-Seq, Methyl-Seq and ChIP-Seq analysis, which have a wide range of applications.
The NanoString nCounter system uses a novel technique of molecular barcodes linked to specific probes that can detect and count hundreds of targets in a single reaction without amplification, so that users can study a large number of mRNAs, miRNAs, and DNA molecules simultaneously with sensitivity and ‘gold standard’ reproducibility. Its applications include gene expression analysis, gene fusion, copy-number variation (CNV) and simultaneous analysis of mRNAs and RNA regulators such as miRNAs and lncRNAs.
The nCounter Dx is CE and IVD certified for conducting analyses that ensure care quality and, along with these applications, make the nCounter a tool with high potential for clinical use. Currently, there is a CE-marked test for in vitro diagnostics (CE-IVD) on the market, which was approved by the FDA for breast cancer (Prosigna-PAM50), based on the molecular analysis of the gene expression of 50 genes. This lets it classify the tumor into one out of four intrinsic subtypes, related to disease prognosis and choice of treatment. In addition, the launch of another validated kit for in-vitro diagnostics (CE-IVD / FDA) is currently underway, based on 20 differential gene expression patterns, aimed at determining DLBCL (Diffuse Large B-Cell Lymphoma) subtypes, and related disease treatment.
The digital PCR offers a more precise and sensitive alternative to conventional qPCR for absolute quantification and detection of rare alleles without the need for standards or endogenous controls due to droplet partitioning.
The unit has 3 platforms aimed at genotyping PCR and gene expression studies:
With regard to IMIBIC research staff, the unit offers the possibility of using the qPCR platforms under a "self-service" scheme (without technical operator).
The unit has additional appliances designed for quantification, quality analysis and determining the size of nucleic acid fragments:
A grant to finance the unit with new equipment (Biomark HD) has been recently awarded and that will allow, among others, perform high throughput genotyping analysis.