Computational approaches for integrative cancer genomics

Given the complexity and heterogeneity of cancer, the development of new high-throughput wide-genome technologies has open new possibilities for its study. Several projects around the globe are exploiting these technologies for generating unprecedented amount of data for cancer genomes. Its analysis...

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Detalhes bibliográficos
Autor: Pérez Llamas, Christian
Tipo de documento: tese
Estado:Versão publicada
Data de publicação:2015
País:España
Recursos:CBUC, CESCA
Repositório:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/328729
Acesso em linha:http://hdl.handle.net/10803/328729
Access Level:Acceso aberto
Palavra-chave:Cancer
Genomics
Mutations
Drivers
High-throughput
Genòmica
Mutacions
616
Descrição
Resumo:Given the complexity and heterogeneity of cancer, the development of new high-throughput wide-genome technologies has open new possibilities for its study. Several projects around the globe are exploiting these technologies for generating unprecedented amount of data for cancer genomes. Its analysis, integration and exploration are still a key challenge in the field. In this dissertation, we first present Gitools, a tool for accessing databases in biology, analysing high-throughput data, and visualising multi-dimensional results with interactive heatmaps. Then, we show IntOGen, the methodology employed for collection and organization of the data, the methods used for its analysis, and how the results and analysis were made available to other researchers. Finally, we compare several methods for impact prediction of non-synonymous mutations, showing that new tools specifically designed for cancer outperform those traditionally used for general diseases, and also the need for using other sources of information for better prediction of cancer mutations.