Approximate jitter probability in the breakpoints of genome copy number variations

Abstract

The jitter probability is derived and analyzed in the breakpoints of the measured genome copy number variations (CNVs). It is supposed that measurements are provided using the high resolution array-comparative genomic hybridization (HR-CGH) microarray. We show that jitter is fundamentally inherent to the measured CNVs and that the jitter probability has the recently derived discrete skew Laplace distribution. No one estimator, even ideal, is able to provide the jitter-free breakpoints detection. The jitter region can be outlined for the required probability via measurements with known noise variances. Some simulation results are supplied.