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\contentsline {chapter}{\chapternumberline {1}\MakeTextUppercase {Introdu\IeC {\c c}\IeC {\~a}o e Justificativa}}{1}{chapter.1}
\contentsline {section}{\numberline {1.1}Inform\IeC {\'a}tica Biom\IeC {\'e}dica}{1}{section.1.1}
\contentsline {section}{\numberline {1.2}Bioinform\IeC {\'a}tica}{2}{section.1.2}
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\contentsline {subsubsection}{\numberline {4.1.3.2}Realinhamento Local em regi\IeC {\~o}es de Indels}{52}{subsubsection.4.1.3.2}
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\contentsline {paragraph}{\numberline {4.1.3.2.2}Aplica\IeC {\c c}\IeC {\~a}o da Recalibra\IeC {\c c}\IeC {\~a}o}{56}{paragraph.4.1.3.2.2}
\contentsline {subsubsection}{\numberline {4.1.3.3}Recalibra\IeC {\c c}\IeC {\~a}o do Escore de Qualidade da Base}{56}{subsubsection.4.1.3.3}
\contentsline {subsubsection}{\numberline {4.1.3.4}Chamada de variantes}{60}{subsubsection.4.1.3.4}
\contentsline {subsubsection}{\numberline {4.1.3.5}Recalibra\IeC {\c c}\IeC {\~a}o do Escore de Qualidade da Variante}{60}{subsubsection.4.1.3.5}
\contentsline {subsubsection}{\numberline {4.1.3.6}Processo de Filtragem de Indels}{60}{subsubsection.4.1.3.6}
\contentsline {section}{\numberline {4.2}Anota\IeC {\c c}\IeC {\~a}o de Exomas}{62}{section.4.2}
\contentsline {section}{\numberline {4.3}Mendel,MD - Constru\IeC {\c c}\IeC {\~a}o da Ferramenta}{62}{section.4.3}
\contentsline {subsection}{\numberline {4.3.1}Banco de Dados}{63}{subsection.4.3.1}
\contentsline {subsection}{\numberline {4.3.2}Dashboard}{64}{subsection.4.3.2}
\contentsline {subsection}{\numberline {4.3.3}Upload de Genomas}{66}{subsection.4.3.3}
\contentsline {subsection}{\numberline {4.3.4}Agendador de Tarefas}{66}{subsection.4.3.4}
\contentsline {subsection}{\numberline {4.3.5}Convers\IeC {\~a}o dos dados para CSV}{66}{subsection.4.3.5}
\contentsline {subsection}{\numberline {4.3.6}Anota\IeC {\c c}\IeC {\~a}o de Variantes}{71}{subsection.4.3.6}
\contentsline {subsection}{\numberline {4.3.7}Controle de Qualidade sobre os dados}{73}{subsection.4.3.7}
\contentsline {subsection}{\numberline {4.3.8}Genes}{76}{subsection.4.3.8}
\contentsline {subsection}{\numberline {4.3.9}Doen\IeC {\c c}as}{76}{subsection.4.3.9}
\contentsline {subsection}{\numberline {4.3.10}Filtragem de Variantes}{76}{subsection.4.3.10}
\contentsline {subsubsection}{\numberline {4.3.10.1}1-Click}{84}{subsubsection.4.3.10.1}
\contentsline {subsubsection}{\numberline {4.3.10.2}An\IeC {\'a}lise de Filtros para Fam\IeC {\'\i }lias}{85}{subsubsection.4.3.10.2}
\contentsline {subsubsection}{\numberline {4.3.10.3}Visualiza\IeC {\c c}\IeC {\~a}o de variantes}{85}{subsubsection.4.3.10.3}
\contentsline {subsubsection}{\numberline {4.3.10.4}Exporta\IeC {\c c}\IeC {\~a}o de resultados}{85}{subsubsection.4.3.10.4}
\contentsline {subsection}{\numberline {4.3.11}Compara\IeC {\c c}\IeC {\~a}o de Exomas}{88}{subsection.4.3.11}
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\contentsline {subsection}{\numberline {4.4.2}Caso Cl\IeC {\'\i }nico LGC 2}{91}{subsection.4.4.2}
\contentsline {subsection}{\numberline {4.4.3}Outros casos cl\IeC {\'\i }nicos}{93}{subsection.4.4.3}
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\contentsline {section}{\numberline {5.1}Sobre o armazenamento dos dados}{107}{section.5.1}
\contentsline {section}{\numberline {5.2}Sobre a anota\IeC {\c c}\IeC {\~a}o de variantes}{108}{section.5.2}
\contentsline {section}{\numberline {5.3}Sobre a filtragem de variantes}{109}{section.5.3}
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\contentsline {section}{\numberline {5.7}Quest\IeC {\~o}es \IeC {\'E}ticas}{113}{section.5.7}
\contentsline {subsection}{\numberline {5.7.1}Em rela\IeC {\c c}\IeC {\~a}o ao n\IeC {\'u}mero de pacientes}{114}{subsection.5.7.1}
\contentsline {subsection}{\numberline {5.7.2}Valida\IeC {\c c}\IeC {\~a}o Experimental}{114}{subsection.5.7.2}
\contentsline {subsection}{\numberline {5.7.3}Sobre o futuro da an\IeC {\'a}lise de exomas e genomas}{115}{subsection.5.7.3}
\contentsline {section}{\numberline {5.8}Custo do Sequenciamento e da Interpreta\IeC {\c c}\IeC {\~a}o de Exomas}{115}{section.5.8}
\contentsline {section}{\numberline {5.9}Servi\IeC {\c c}os Online e Softwares Comerciais}{115}{section.5.9}
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