Banca de QUALIFICAÇÃO: PRISCILLA MACHADO DO NASCIMENTO

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
DISCENTE : PRISCILLA MACHADO DO NASCIMENTO
DATA : 28/02/2018
HORA: 14:00
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: 68
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 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. 

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