CNAseg - a novel framework for identification of copy number changes in cancer from second-generation sequencing data

@article{Ivakhno2010CNAsegA,
  title={CNAseg - a novel framework for identification of copy number changes in cancer from second-generation sequencing data},
  author={Sergii Ivakhno and Tom Royce and Anthony J. Cox and Dirk J. Evers and R. Keira Cheetham and Simon Tavar{\'e}},
  journal={Bioinformatics},
  year={2010},
  volume={26 24},
  pages={3051-8}
}
MOTIVATION Copy number abnormalities (CNAs) represent an important type of genetic mutation that can lead to abnormal cell growth and proliferation. New high-throughput sequencing technologies promise comprehensive characterization of CNAs. In contrast to microarrays, where probe design follows a carefully developed protocol, reads represent a random sample from a library and may be prone to representation biases due to GC content and other factors. The discrimination between true and false… CONTINUE READING

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