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/Title(Dedicat\363ria)
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/Title(Agradecimentos)
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/Title(Abstract)
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/Title(Lista de Tabelas)
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/Title(Lista de abreviaturas e siglas)
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/Title(\315ndice)
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/Title(Introdu\347\343o e Justificativa)
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/Title(Inform\341tica Biom\351dica)
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/Title(Bioinform\341tica)
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/Title(Projeto Genoma Humano)
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/Title(Projeto 1000 Genomas)
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/Title(Exome Sequencing Project)
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/Title(Exoma)
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/Title(SNPs e Indels)
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/Title(Medicina de Precis\343o)
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/Title(Doen\347as Mendelianas)
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/Title(An\341lise de Exomas)
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/Title(Objetivos)
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/Title(Objetivo Geral)
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/Title(Bash)
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/Title(Python)
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/Title(Django)
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/Title(Formatos Utilizados)
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/Title(FASTQ)
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/Title(Sequence Alignment Map - Formato SAM)
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/Title(Variant Call Format - Formato VCF)
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/Title(Programas Utilizados)
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/Title(FASTQC)
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/Title(SAMTOOLS)
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/Title(PICARD TOOLS)
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/Title(Burrows-Wheeler Aligner)
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/Title(BFAST)
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/Title(GATK)
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/Title(IGV)
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/Title(SnpEff)
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/Title(ANNOVAR)
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/Title(Banco de Dados e Fontes de Informa\347\343o Utilizadas)
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/Title(1000Genomes)
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/Title(Exome Variant Server)
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/Title(dbSNP)
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/Title(dbNSFP)
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/Title(GATK Resource Bundle)
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/Title(OMIM)
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/Title(HGNC - HUGO Gene Nomenclature Committee)
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/Title(HGMD)
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/Title(Genoma Humano de Refer\352ncia b37)
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/Title(PHRED)
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/Title(SIFT)
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/Title(Polyphen-2)
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/Title(Workflow de An\341lise de Exomas)
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/Title(Alinhamento dos dados de SOLID 5500xl)
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/Title(Resultados)
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/Title(Alinhamento e An\341lise de Exomas)
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/Title(Controle de Qualidade sobre os dados)
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/Title(Alinhamento)
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/Title(GATK Genome Analysis ToolKit)
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/Title(Remo\347\343o de leituras duplicadas)
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/Title(Realinhamento Local em regi\365es de Indels)
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/Title(Cria\347\343o dos alvos para realinhamento)
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/Title(Aplica\347\343o do Recalibramento)
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/Title(Recalibra\347\343o do Escore de Qualidade da Base)
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/Title(Chamada de variantes)
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/Title(Recalibra\347\343o do Escore de Qualidade da Variante)
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/Title(Processo de Filtragem de Indels)
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/Title(Anota\347\343o de Exomas)
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/Title(Mendel,MD - Constru\347\343o da Ferramenta)
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/Title(Banco de Dados)
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/Title(Dashboard)
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/Title(Upload de Genomas)
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/Title(Agendador de Tarefas)
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/Title(Convers\343o dos dados para CSV)
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/Title(Anota\347\343o de Variantes)
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/Title(Controle de Qualidade sobre os dados)
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/Title(Genes)
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/Title(Doen\347as)
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/Title(Filtragem de Variantes)
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/Title(An\341lise de Filtros para Fam\355lias)
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/Title(Visualiza\347\343o de variantes)
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/Title(Exporta\347\343o de resultados)
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/Title(Compara\347\343o de Exomas)
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/Title(Casos Cl\355nicos)
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/Title(Casos cl\355nicos estudados pelo nosso laborat\363rio)
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/Title(Caso 1)
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/Title(Discuss\343o)
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/Title(Sobre o armazenamento dos dados)
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/Title(Sobre a anota\347\343o de variantes)
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/Title(Variantes falso positivas e negativas)
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/Title(Exporta\347\343o dos dados)
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/Title(Valida\347\343o Experimental)
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/Title(Sobre o futuro da an\341lise de exomas e genomas)
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/Title(Valida\347\343o da usabilidade da ferramenta)
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/Title(Custo do Sequenciamento e da Interpreta\347\343o de Exomas)
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/Title(Servi\347os Online e Softwares Comerciais)
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/Title(Conclus\343o e Perspectivas)
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/Title(Refer\352ncias)
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/Title(Modelo utilizado para armazenar os dados de cada indiv\355duo.)
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/Title(Modelo utilizado para armazenar os dados sobre as variantes de cada indiv\355duo.)
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/Title(BWA - Script desenvolvido para realizar o alinhamento dos arquivos em formato FASTQ.)
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/Title(GATK- Script desenvolvido para executar o programa GATK.)
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/Title(Unified Genotyper - GATK - Script desenvolvido para realizar o Calling de Variantes)
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