Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay

Abstract excerpt

Next-generation sequencing (NGS) technology is routinely employed to detect clinically significant variants in the field of precision medicine.Formalin-fixed paraffin-embedded (FFPE) tissues remain a widely used source of genetic material for diagnostic purposes due to their long-term storage stability, which preserves the architecture of tumour tissues.However, the degradation of nucleic acids (NAs) that occurs...

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