Banca de QUALIFICAÇÃO: PRISCILLA MACHADO DO NASCIMENTO

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
DISCENTE : PRISCILLA MACHADO DO NASCIMENTO
DATA : 25/05/2018
HORA: 10:00
LOCAL: BioME
TÍTULO:

Implementation of Functions for a Platform of Genomic Variants Analysis

PALAVRAS-CHAVES:

Bioinformatics. Genetic panels. Mutation. Analysis of variants. Clinvar.  Predictors.

PÁGINAS: 83
GRANDE ÁREA: Ciências Exatas e da Terra
ÁREA: Ciência da Computação
RESUMO:

Current scientific advances in genomics have been provided due to extraction of significant information from the DNA using new technologies available for the analysis of genetic data. Precision medicine is based on these technological advances to better understand the genetic constitution and possible changes that may lead to diseases with patient-specific differential responses to treatments. Considering the process of genetic mutation as one of the drivers of evolution and with the goal to better understand its effects, the present work aims to contribute to future analysis of mutation data, helping in thefuture identification of new hotspots and SNPs. For this analysis, 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 the aforementioned software, contributing directly to the automation and improvement of the processes performed by the variant analysis tools available in the market. Aiming at an applicability of what was developed, an analysis ofthe public data used to annotate the variants of the system was proposed. For this, a study will be carried out regarding the data of the existing predictors, so that the accuracy of the data can beverified 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 process was proposed that aims to improve the accuracy of the SNPs identified by the system

MEMBROS DA BANCA:
Presidente - 2170415 - JORGE ESTEFANO SANTANA DE SOUZA
Interno - 1513597 - JOAO PAULO MATOS SANTOS LIMA