Copy Number Variations (CNVs) are genomic structural variations frequently observed in healthy individuals, but can also lead to disease. They are the etiological cause of many rare genomic disorders that affect a large number of people in population, constituting a major public health problem. Unlike other small mutations, deleterious CNVs can reach millions of nucleotides containing several genes and other functional DNA regions. Many of these CNVs have yet unknown relationships to the phenotypes observed in patients. Therefore, the identification of the potentially affected molecular and genetical mechanisms in the CNVs and their relation with certain phenotypes in patients with rare deleterious disorders, nowadays, remains as a big challenge for clinical geneticists. Based on different datasets that links phenotypes, patients and genomic loci, two systemic approaches were used to understand the molecular basis that underlie those CNVs. Firstly, a functional analysis of the genes coded in these regions is carried out to realise which are the biological processes affected by the CNVs mutations thus to the phenotypes. Secondly, a network propagation analysis is done to expand the knowledge of the query genes and its interactome context. The results obtained for a cluster of patients and a number of phenotypes of clinical interest are briefly explained

Trabajo fin de máster en Bioinformática y Biología Computacional