作者: Hye-Jung E. Chun , Jaswinder Khattra , Martin Krzywinski , Samuel A. Aparicio , Marco A. Marra
DOI: 10.1016/B978-0-12-396967-5.00002-5
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摘要: Cancer results from accumulated mutations in the genome. Sequencing is an accurate method to detect mutations. Second-generation sequencing technology, commonly referred as next-generation enables rapid, efficient and affordable DNA sequencing, transforming scale scope of cancer research. The technology sufficiently flexible allow many genomes, thus facilitates both samples large patient cohorts during disease progression individual patients. high depths redundant sequence coverage that can be obtained using some second-generation technologies, along with reads amplified single molecules, facilitate detection subclones cells tumors. Large-scale genome hundreds or even thousands being conducted by several groups aim identify characterize driver Goals such work, previously infeasible Sanger instruments, are use this information improve prognosis, diagnosis therapeutic decision-making. speed data analysis rate limiting, investigators struggling accommodate interpret deluge produced technologies. In chapter, we discuss properties revealed implication experimental design interpretation. We describe past, current upcoming technologies application genomics. Finally, impact shaping personalized medicine.