Targeted High Depth Next Generation Sequencing of Tumor Specimens
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چکیده
We have developed a targeted next generation sequencing (NGS) methodology for sensitive DNA variant detection that is highly optimized for clinical specimens and enables the accurate detection of clinically actionable mutations from low input DNA quantities. This strategy provides reliable, uniform, and high depth (>1000x) sequencing across gene regions representing >500 known cancerassociated mutations, and is compatible with the types of “real world” patient samples that are commonly used for cancer diagnostics, including formalin-fixed paraffin-embedded (FFPE) and fine needle aspiration (FNA) specimens. The performance of several predesigned gene panels was validated using orthogonal methods, including Sanger sequencing and a highly sensitive probe-based mutation assay. Last, we have demonstrated the value of distinct sequencing technologies, such as those from Illumina and Ion Torrent, to provide accurate confirmation of mutation positives from primary NGS data.
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Targeted High Depth Next Generation Sequencing of Tumor Specimens
We have developed a targeted next generation sequencing (NGS) methodology for sensitive DNA variant detection that is highly optimized for clinical specimens and enables the accurate detection of clinically actionable mutations from low input DNA quantities. This strategy provides reliable, uniform, and high depth (>1000x) sequencing across gene regions representing >500 known cancerassociated ...
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