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.

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Tác giả: Kamil Biringer, Zuzana Danková, Anton Dzian, Marián Grendár, Erika Halašová, Andrea Hornáková, Erik Kúdela, Katarína Lešková, Dušan Loderer, Juraj Miklušica, Peter Mikolajčík, Lukáš Plank, Tomáš Rokos, Marek Smolár, Katarína Tobiášová

Ngôn ngữ: eng

Ký hiệu phân loại: 615.8 Specific therapies and kinds of therapies

Thông tin xuất bản: Greece : Experimental and therapeutic medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 675928

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 during the fixation process can lead to unreliable results or hinder analysis. Considering the challenges posed by the quality and quantity of nucleic acids extracted from FFPE samples, the present study aimed to compare paired fresh-frozen (FF) and FFPE samples. The present study also aimed to assess the concordance rate of quality control metrics of sequenced libraries and identify variants and biomarkers between FFPE and FF tissues. The Illumina
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