uniformity, and variant call accuracy from FFPE TNA and DNA. For example, a single pool of 8 RNA and 16 DNA libraries yielded >500,000 reads for each library, with RNA… Click to show full abstract
uniformity, and variant call accuracy from FFPE TNA and DNA. For example, a single pool of 8 RNA and 16 DNA libraries yielded >500,000 reads for each library, with RNA fusions called with 189 to 11,274 reads and DNA mutations detected down to 5% variant allele frequency. Variant calls were 100% concordant with independent results and included mutations in EGFR, RAS, PIK3CA, and BRAF, along with fusions in ALK, RET, and NRG1 and skipped METex14. Conclusion: The co-detection strategy generated reliable quantitative information from low-input tumor FFPE DNA and TNA within three days. The simplicity and speed of the approach, coupled with a standardized workflow, has the potential to increase the accessibility of NGS analysis and accelerate the return of results for NSCLC patients.
               
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