Abstract / truncated to 115 words (read the full abstract)

Copy Number Alterations (CNA)s are hallmarks of cancer, which are gains or losses in copies of Deoxyribonucleic Acid (DNA) sections. Nowadays, CNAs are routinely measured by different techniques for diagnostic and prognostic purposes. The array-Comparative Genomic Hybridization (aCGH), Array-Single Nucleotide Polymorphism (aSNP) and Next Generation Sequencing (NGS) are examples of technologies that enable cost-efficient high resolution detection of CNAs. Intensive noise as well as technical and biological biases inherent to modern technologies of CNAs probing often cause inconsistency between the estimates provided by different methods. Efficient and accurate detection of the breakpoint positions in heterogeneous cancer samples measured under such conditions is a challenging practical and methodological problem. Despite the necessity of accurate CNA estimates, ... toggle 5 keywords

copy number alterations – breakpoint – laplace distribution – confidence probability – probability confidence masks

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