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

31 Jul 2015

Abstract excerpt

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 analysis tool needs to be further investigated in a diagnostic setting. METHODS: DNA from 21 patients with genetic...

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PMID: 26230854
DOI: 10.1371/journal.pone.0133210

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