Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing data

Antonio Rueda, Francisco Javier López, Javier Pérez, Pablo Arce, Luis Miguel Cruz, José Carbonell, Jorge Jiménez-Almazán, Enrique Vidal, Guillermo Antiñolo, Joaquín Dopazo, Javier Santoyo


In this poster, a whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseasesis 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.

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