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• W2159581459 abstract "Efforts to detect and investigate key oncogenic mutations have proven valuable to facilitate the appropriate treatment for cancer patients. The establishment of high-throughput, massively parallel next-generation sequencing has aided the discovery of many such mutations. To enhance the clinical and translational utility of this technology, platforms must be high-throughput, cost-effective, and compatible with formalin-fixed paraffin embedded (FFPE) tissue samples that may yield small amounts of degraded or damaged DNA. Here, we describe the preparation of barcoded and multiplexed DNA libraries followed by hybridization-based capture of targeted exons for the detection of cancer-associated mutations in fresh frozen and FFPE tumors by massively parallel sequencing. This method enables the identification of sequence mutations, copy number alterations, and select structural rearrangements involving all targeted genes. Targeted exon sequencing offers the benefits of high throughput, low cost, and deep sequence coverage, thus conferring high sensitivity for detecting low frequency mutations." @default.
• W2159581459 created "2016-06-24" @default.
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• W2159581459 date "2013-10-18" @default.
• W2159581459 modified "2023-09-27" @default.
• W2159581459 title "Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing" @default.
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• W2159581459 doi "https://doi.org/10.3791/50710" @default.
• W2159581459 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3947962" @default.
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