Comprehensive, quality-based interval scores for analysis of comparative genomic hybridization data

摘要

Embodiments of the present invention are directed to increasing the reliability, precision, and resolution of identification, by analysis of comparative genomic hybridization (“CGH”) data and array-based comparative genomic hybridization (“aCGH”) data, of intervals along one or more chromosomes in which the copy number of the DNA subsequence within the interval in a sample genome is difference from the copy number of the DNA subsequence within a standard, or normal, genome. In various embodiments of the present invention, statistical data-quality measures are incorporated into comprehensive, quality-based interval-scores. In one described embodiment of the present invention, standard deviations for log ratios of signal intensities obtained by instrumental analysis of a microarray are used, along with the log ratios of signal intensities, to compute, for each interval, a weighted interval mean and interval variance, which are mathematically combined to produce a comprehensive, quality-based interval score that can be used to more reliably, precisely, and with greater resolution identify intervals along one or more chromosomes.