Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases

Francisco Javier Lopez Domingo, Antonio Rueda Martin, Javier P. Florido, Alicia Vela Boza, Pablo Arce Garcia, Luis Miguel Cruz Renedo, Javier Escalante, Ana Isabel Lopez Perez, Federica Trombetta, Guillermo Antinolo, Javier Santoyo Lopez. Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases. In Ignacio Rojas, Francisco M. Ortuño Guzman, editors, International Work-Conference on Bioinformatics and Biomedical Engineering, IWBBIO 2013, Granada, Spain, March 18-20, 2013. Proceedings. pages 253-254, Copicentro Editorial, 2013. [doi]

@inproceedings{DomingoMFBGREPTAL13,
  title = {Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases},
  author = {Francisco Javier Lopez Domingo and Antonio Rueda Martin and Javier P. Florido and Alicia Vela Boza and Pablo Arce Garcia and Luis Miguel Cruz Renedo and Javier Escalante and Ana Isabel Lopez Perez and Federica Trombetta and Guillermo Antinolo and Javier Santoyo Lopez},
  year = {2013},
  url = {http://iwbbio.ugr.es/papers/iwbbio_042.pdf},
  researchr = {https://researchr.org/publication/DomingoMFBGREPTAL13},
  cites = {0},
  citedby = {0},
  pages = {253-254},
  booktitle = {International Work-Conference on Bioinformatics and Biomedical Engineering, IWBBIO 2013, Granada, Spain, March 18-20, 2013. Proceedings},
  editor = {Ignacio Rojas and Francisco M. Ortuño Guzman},
  publisher = {Copicentro Editorial},
  isbn = {84-15814-13-9},
}