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

Authors

  • Antonio Rueda Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), Sevillia
  • Francisco Javier López Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), , Sevillia
  • Javier Pérez Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), , Sevillia
  • Pablo Arce Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), , Sevillia
  • Luis Miguel Cruz Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP) , Sevillia
  • José Carbonell Institute of Computational Genomics, Principe Felipe Research Centre (CIPF), Valencia
  • Jorge Jiménez-Almazán Institute of Computational Genomics, Principe Felipe Research Centre (CIPF), Valencia
  • Enrique Vidal Institute of Computational Genomics, Principe Felipe Research Centre (CIPF), Valencia
  • Guillermo Antiñolo 1 Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), Sevilla 2 Unidad de gestión clínica de genética, reproducción y medicina fetal. Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío-CSIC-University of Seville, Sevilla
  • Joaquín Dopazo Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), Sevilla1 2 Institute of Computational Genomics, Principe Felipe Research Centre (CIPF), Valencia
  • Javier Santoyo 1 Andalusian Human Genome Sequencing Centre (CASEGH), Medical Genome Project (MGP), Sevilla

DOI:

https://doi.org/10.14806/ej.19.A.647

Abstract

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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Published

2013-04-08

Issue

Vol. 19: Supplement A

Section

Posters

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