Implementation of Functions for a Platform of Genomic Variants Analysis
Bioinformatics. Genetic panels. Mutation. Analysis of variants. Clinvar. Predictors.
Current scientific advances in genomics have been provided due to extraction of significant information from the DNA due to the use of the new technologies available for the analysis of genetic data. Precision medicine makes use these technological advances to better understand the genetic constitution and possible changes that may produce diseases with differentiated responses to treatments in an individual. Considering the process of genetic mutation as one of the drivers of evolution and with a view to a better understanding this process, the present work aims to contribute to future analysis of mutation data, aiming at helping in the future the identification of new hotspost and SNPs. In order for this analysis to be carried out, a software product was developed responsible for offering assistance to the collected data, in order to analyze them in an efficient way and to visualize them in a more precise way. This work proposes the implementation of new functionalities that can add more value to this product, contributing directly to the automation and improvement of the processes performed by the tools of analysis of variants available in the market. Aiming at a practical applicability of what was developed, an analysis of the public data used to annotate the variants of the system was proposed. For this, a study will be carried out regarding the data of theexisting predictors, so that the accuracy of the data can be verified in relation to the clinical data recorded in ClinVar. In order to extract data to demonstrate the relevance of the false positive/negative analysis presented through the existing predictors, a prototype was proposed to automate the accuracy of the SNPs identified by the system.