Matching Confidence Masks with Experts Annotations for Estimates of Chromosomal Copy Number Alterations

Structural aberrations (SAs), gains or losses in large segments of genomes, are associated with several genetic disorders. The SAs are commonly called the copy number alterations (CNAs) and their identification/classification is required to identify diseases. Many methods have been proposed to estimate the breakpoints and segmental constants in the CNAs with highest precision using the most powerful technologies of hybridization. However, the locations and lengths of CNAs estimated using well-elaborated methods are often contradictive due to extensive variability of measurements and performances of the algorithm. Still much less attention is paid to the estimation accuracy and it is hard to select the best estimator. In this brief, we match the confidence masks earlier designed to improve the estimates with annotations made by several experts. Based upon, we specify the confidence probability for the masks.

Author(s): Minjares JM and Shmaliy YS

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