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Enhancing Estimates of Breakpoints in Genome Copy Number Alteration using Confidence Masks
[chapter]
2016
Advanced Biosignal Processing and Diagnostic Methods
Chromosomal structural changes in human body known as copy number alteration (CNA) are often associated with diseases, such as various forms of cancer. Therefore, accurate estimation of breakpoints of the CNAs is important to understand the genetic basis of many diseases. The high-resolution comparative genomic hybridization (HR-CGH) and single-nucleotide polymorphism (SNP) technologies enable cost-efficient and high-throughput CNA detection. However, probing provided using these profiles gives
doi:10.5772/63913
fatcat:f3nzaikkubc5riiaswquolcugy