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Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing

In this study, we validated the analytical performance of BRCA1/2 sequencing using Ion Torrent's new bench-top sequencer with amplicon panel with optimized bioinformatics pipelines. Using 43 samples that were previously validated by Illumina's MiSeq platform and/or by Sanger sequencing/mul...

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Detalles Bibliográficos
Autores principales:	Shin, Saeam, Kim, Yoonjung, Oh, Seoung Chul, Yu, Nae, Lee, Seung-Tae, Choi, Jong Rak, Lee, Kyung-A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals LLC 2017
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471017/ https://www.ncbi.nlm.nih.gov/pubmed/28422718 http://dx.doi.org/10.18632/oncotarget.16799

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