Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

BACKGROUND: The Ion Torrent PGM is a popular benchtop sequencer that shows promise in replacing conventional Sanger sequencing as the gold standard for mutation detection. Despite the PGM’s reported high accuracy in calling single nucleotide variations, it tends to generate many false positive calls...

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Detalles Bibliográficos
Autores principales: Yeo, Zhen Xuan, Wong, Joshua Chee Leong, Rozen, Steven G, Lee, Ann Siew Gek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079958/
https://www.ncbi.nlm.nih.gov/pubmed/24962530
http://dx.doi.org/10.1186/1471-2164-15-516

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079958/
https://www.ncbi.nlm.nih.gov/pubmed/24962530
http://dx.doi.org/10.1186/1471-2164-15-516

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