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Frequently Asked Questions

What are the advantages of using RNA as a sequencing tool?

RNA-based approaches have the overall advantage of allowing an analysis of transcriptionally expressed gene fusions and sequencing is not affected by intronic regions [13]. In addition, RNA panels, besides gene fusions, allow a contemporary analysis of exon skipping events and expression levels of genes with a clinical value [42].

Is a parallel or sequential NGS workup more efficient?

We compared molecular findings in a parallel workup (DNA NGS and RNA NGS, cohort 1, n = 198) with a sequential workup (DNA NGS followed by RNA NGS in selected cases, cohort 2, n = 192). We hypothesized the sequential workup to be the more efficient procedure.

Are short amplicons better than NGS for DNA analysis?

They found that the use of short amplicons may result in a higher fraction of analyzed DNA in comparison to NGS methods including ligation and clean up.

What are the advantages of NGS panels?

Although FISH and IHC are still the gold standard tests in most cases, NGS panels offer several advantages in the clinical practice. Gene fusions can be analyzed by NGS at DNA or RNA levels and in both cases targeted panels are preferred, they can be custom or commercially available, some of which approved for diagnostic use.


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