The CRS4, less than a year after expanding its Next Generation Sequencing Core infrastructure with a cutting-edge Illumina NovaSeq X Plus genomic sequencer capable of producing data up to 120TB per month across various sample types, including humans, animals, and plants, at higher speeds and reduced costs, is strengthening its capabilities by acquiring expertise in the field of bioinformatics.
Furthermore, the use of specific software already employed by accredited international entities for diagnostics allows the interpretation of genomic data, even at the clinical level. This configuration enables the analysis, customization of investigations, and organization, consultation, and updating of data related to clinical cases, which are also the subject of scientific studies.
In recent years, advanced sequencing methods have become highly translational, moving from research to clinical diagnostics and personalized medicine. The new configuration of the CRS4 platform aims to steer sequencing towards diagnostics and clinical applications.
Specifically, in the diagnostic field, starting from exome or genome sequencing, it is possible to identify genetic variants, compare them with public databases, classify them concerning the inheritance model, potential biological effects, and other parameters. This aids in determining the genetic causes triggering various pathologies and their nuances.
Moreover, this structured configuration is essential for diagnostic applications as it ensures certifiable, secure, and reproducible analysis, laboratory, and bioinformatics processes, thanks to the introduction of various documentable quality control levels.
Giacomo Cao, the sole administrator of CRS4, stated, “Thanks to the team composed of manager Lidia Leoni, researcher Riccardo Berutti, technologists Rossano Atzeni and Roberto Cusano, and technologist Jessica Milia, along with the availability of a state-of-the-art sequencer, probably still unique in Italy, as well as cutting-edge bioinformatic software, the Center is preparing to provide high-profile medical genetics services to all healthcare professionals. Considering the specificity of having simultaneous access to genomic sequences and their bioinformatic interpretation, we believe that in the immediate future, we can be a valuable support for the healthcare system and research, not only at the local level.”
