Abstract 1159: Single molecule sequencing to detect and characterize somatic mutations in cancer genomes
| العنوان: | Abstract 1159: Single molecule sequencing to detect and characterize somatic mutations in cancer genomes |
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| المؤلفون: | Primo Baybayan, Benson Chau, Chen-Shan Chin, Rachel Maupin, Kevin Travers, Vince Magrini, Michael D. McLellan, John Eid, Todd Wylie, Jason Londry, Elaine R. Mardis |
| المصدر: | Cancer Research. 70:1159-1159 |
| بيانات النشر: | American Association for Cancer Research (AACR), 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Cancer genome sequencing, Genetics, Cancer Research, education.field_of_study, Population, Cancer, Context (language use), Biology, medicine.disease, Genome, genomic DNA, Oncology, medicine, education, Gene, Single molecule real time sequencing |
| الوصف: | One result of large-scale cancer genome characterization is the identification of sets of genes that are commonly mutated in specific tumor types or subtypes and have clinical relevance, e.g. are prognostic or diagnostic. In this paradigm, we have investigated the use of a novel, single molecular real time (SMRT) sequencing technology from Pacific Biosciences that enables targeted regions to be sequenced in real time as single molecules in a mixed population. Several experiments were performed to evaluate the performance of this technology in the context of testing for cancer-specific mutations in previously characterized samples. In the first experiment we assessed whether SMRT sequencing could detect the known mutations of PCR products derived from genomic DNA of tumor cells compared to normal cells. In the second experiment we investigated the impact of different neoplastic cellularity percentages on the ability to detect known mutations. The final experiment involved producing deep read count SMRT sequencing data from PCR products containing known variants to ascertain their different levels of prevalence in a discrete tumor cell population, and then comparing these results to deep read counts for the same variants obtained with the Illumina instrument. Our results indicate that the Pacific Biosciences instrument offers exquisite sensitivity and speed in detecting somatic single base mutations in tumor-derived genomic DNAs. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 1159. |
| تدمد: | 1538-7445 0008-5472 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::a9c875679f586b63b4df0cd0cd686d80 https://doi.org/10.1158/1538-7445.am10-1159 |
| رقم الأكسشن: | edsair.doi...........a9c875679f586b63b4df0cd0cd686d80 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15387445 00085472 |
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