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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma

BACKGROUND: Recent studies have demonstrated equal quality of targeted next generation sequencing (NGS) compared to Sanger Sequencing. Whereas these novel sequencing processes have a validated robust performance, choice of enrichment method and different available bioinformatic software as reliable...

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Detalles Bibliográficos
Autores principales: Crona, Joakim, Ljungström, Viktor, Welin, Staffan, Walz, Martin K., Hellman, Per, Björklund, Peyman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521794/
https://www.ncbi.nlm.nih.gov/pubmed/26230854
http://dx.doi.org/10.1371/journal.pone.0133210