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ICO amplicon NGS data analysis: a web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS junior next-Generation Sequencing

Autor
López-Dóriga, A.; Feliubadalo, L.; Menendez, M.; Lopez-Doriga, S.; Morón, F.; del Valle, J.; Tornero, E.; Montes, E.; Cuesta, R.; Campos, O.; Gómez, C.; Pineda, M.; González, S.; Moreno, V.; Capellá, G.; Lázaro, C.
Tipus d'activitat
Article en revista
Revista
Human mutation
Data de publicació
2013-11-01
Volum
35
Número
3
Pàgina inicial
271
Pàgina final
277
DOI
https://doi.org/10.1002/humu.22484 Obrir en finestra nova
Repositori
http://hdl.handle.net/2117/23387 Obrir en finestra nova
Resum
Next-generation sequencing (NGS) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks to the advent of benchtop sequencers and flexible kits for targeted libraries. Among the main hurdles in NGS are the difficulty of performing bioinformatic analysis of the huge volume of data generated and the high number of false positive calls that could be obtained, depending on the NGS technology and the analysis pipeline. Here, we present the development of a ...
Citació
López-Dóriga, A. [et al.]. ICO amplicon NGS data analysis: a web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS junior next-Generation Sequencing. "Human mutation", 01 Novembre 2013, vol. 35, núm. 3, p. 271-277.
Paraules clau
DIAGNOSIS, bioinformatic analysis, hereditary cancer, mutation analysis, next generation sequencing, variant identification

Participants

  • López Dóriga, Adriana  (autor)
  • Feliubadalo, Lidia  (autor)
  • Menendez, Mireia  (autor)
  • Lopez Doriga, Sergio  (autor)
  • Morón Duran, Francisco D.  (autor)
  • del Valle, Jesús  (autor)
  • Tornero, Eva  (autor)
  • Montes, Eva  (autor)
  • Cuesta, Raquel  (autor)
  • Campos, Olga  (autor)
  • Gómez de Maria, Carolina  (autor)
  • Pineda, Marta  (autor)
  • González, Sara  (autor)
  • Moreno, Victor  (autor)
  • Capellá Munar, Gabriel  (autor)
  • Lázaro, Conxi  (autor)