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Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition.

Folia biologica - 1 Jan 2024

Kleiblová Petra, Černá Marta, Zemánková Petra, Matějková Kateřina, Nehasil Petr, Hojný Jan, Horáčková Klára, Janatová Markéta, Soukupová Jana, Šťastná Barbora, Kleibl Zdeněk

Abstract excerpt

Germline DNA testing using the next-gene-ration sequencing (NGS) technology has become the analytical standard for the diagnostics of hereditary diseases, including cancer. Its increasing use places high demands on correct sample identification, independent confirmation of prioritized variants, and their functional and clinical interpretation. To streamline these processes, we introduced parallel DNA and RNA...

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PMID: 38830124
DOI: 10.14712/fb2024070010062

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