SNP Arrays data bank analysis of patients with malformations and delay in neuropsychomotor development

• Grant number: 17/21659-1
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: March 01, 2018
• End date: February 28, 2019
• Field of knowledge: Health Sciences - Medicine - Pathological Anatomy and Clinical Pathology
• Principal Investigator: Leslie Domenici Kulikowski
• Grantee: Leandro Pedro Goloni Bertollo
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

The HC-FMUSP Cytogenetic and Molecular Pathology Laboratory performs SNP Arrays tests to elucidate cases of patients with malformations and delay in neuropsychomotor development not solved by lower resolution cytogenetic analysis techniques. The results generated, over three years, a bank with raw genomic data constituting a rich source of information for research. At the moment, there is an intense debate in the literature about the contribution of structural variations of DNA to genomic diseases, in this sense, the investigation of the variations of the number of copies (CNVs) obtained by the methodology of SNP Arrays may be relevant for the understanding of the molecular basis of these abnormalities in patients with malformations and delay in neuropsychomotor development. The study will compile and classify the CNVs found in benign, pathogenic or variants of uncertain significance (VOUS) according to the genotype versus clinical phenotype correlation using the databases of the following public databases: UCSC Genome Bioinformatics; Database of Genomic Variants; DECIPHER; NCBI. Subsequently, with the classified data, we will investigate the frequencies of each type of alterations found to obtain an informative overview of the CNVs most relevant for patients with malformations and delay in neuropsychomotor development. The study may contribute to the evaluation of the impact of the genomic architecture on the phenotypes associated with malformations and delay of neuropsychomotor development, providing important subsidies for the understanding of the balance of the genotype - phenotype relationship. (AU)