Fondazione Genomic Study - WES Healthy Controls Characterization

Recent advances in genomic technology are revolutionizing healthcare around the world. Whole exome sequencing (WES) has become an established NGS technology commonly utilized in both research and clinical settings to identify pathogenic (disease-causing) variants that contribute to a number of common complex human traits. WES is a specific implementation of targeted sequencing, targeting 95% of the protein-encoding sections of the genome. At our center, we use WES data in association studies in order to identify rare variants associated to pathological traits including metabolic conditions, such as metabolic dysfunction associated steatotic liver disease (MASLD), inflammatory and rare diseases. To increase the robustness of the results in our future studies, we need to characterize a higher number of well characterized healthy controls. During these years, the Biological Resource center POLI-MI Biobank has started the recruitment of cohorts of blood donors within the Fondazione Genomic study (FOGS), within a genetic research program contributing to clarify the genetic determinants of infectious, inflammatory and metabolic/hepatic diseases.