A genetic platform for studying the creation of structural abnormalities of chromosomes that cause micro-deletion and micro-duplication (MMS) syndromes

The completion of the human genome sequencing in 2003 redefined the molecular basis for understanding many diseases and illnesses at the genetic level. Sequencing of the human genome has led to a radical change in genetic medicine as well as the association of genes with diseases. The application of genetic knowledge in clinical practice in the last 4 years is due to the development of next generation sequencing systems (NGS). NGS technology, also known as massive parallel sequencing, is an innovative high throughput DNA sequencing methodology. NGS technology is the new genetic “weapon” enabling the sequencing of all genes (whole exome sequencing) and the entire human genome (whole genome sequencing) in just a few days, producing huge amounts of information. NGS is rapidly gaining ground in the field of genetic diagnosis and research. It can give combined results for both small gene damage and structural abnormalities of chromosomes. Based on this technology, the goal of GeneScreening project is to create a genetic platform for the detection of pathogenic variants in the copy number variations (CNVs) of wide clinical utility and application in order to prevent and diagnose developmental disorders and mental illnesses. Sub-objectives are: (i) the mapping of repetitive sequences in which the recombination points that cause deficits and microplications are identified, (ii) the creation of biomarkers of pathogenic recombinations, (iii) creating a database of sequences involved in pathogenic recombinations and (iv) the creation of standard recombination point detection software in NGS data.