Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing data
Autor: | Javier Santoyo, Jorge Jiménez-Almazán, Javier Pérez, Guillermo Antiñolo, Antonio Rueda, José Carbonell, Joaquín Dopazo, Luis Miguel Cruz, Francisco Javier López, Enrique Vidal, Pablo Arce |
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Rok vydání: | 2013 |
Předmět: | |
Zdroj: | EMBnet.journal. 19:79 |
ISSN: | 2226-6089 |
Popis: | In this poster, a whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases is presented. Such methodology provides a complete strategy from SOLiD raw reads processing to mendelian analysis and variant selection, and its application over a set of samples from the Medical Genome Project, demonstrating the good performance of the proposed pipeline. |
Databáze: | OpenAIRE |
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