Sequencing in Context: GC/AT-Rich Regions GC-Rich Regions High GC-rich regions can be difficult to amplify and can introduce bias into sequencing as PCR-amplification of are often hampered by the formation of secondary structures like hairpins and higher melting temperature. This can be seen in the figure below by loman et al. Figure: The coverage of […]

validation
Has the time come for validated NGS panels?
Challenges of validating next generation sequencing panels Most of us endorse that NGS can and should be used as part of clinical molecular diagnostic testing menus. On the other hand side developers of next generation sequencing-based assays agree that there are still significant challenges in developing clinical NGS-based gene panels – from the sequencing technology […]
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