Improving Jitter Distribution in the Breakpoints of Genome CNVs

Abstract

The copy number variations (CNVs) are a form of structural genetic changes which are recognized to have an importance for diagnosing human disease. Therefore, accurate estimation of the CNVs using high resolution technologies has been under peer attention in both research and clinical applications during last decades. We propose a more accurate approximation for jitter distribution in the CNVs breakpoints based on the modif ed Bessel function of the second kind and zeroth order. We show that the modif ed distribution allows improving the estimates of the CNVs when the segmental signal-to-noise ratio is small and extremely small.