title: Analysing rearrangement breakpoint distributions by means of binomial confidence intervals.
abstract: Non-randomness in the distribution of rearrangement breakpoints can be assessed by means of a binomial probability model. Using the binomial model, we compute confidence intervals for the observed number of breakpoints in chromosome bands and use these confidence intervals to test for non-randomness in a set of 452 constitutional rearrangement breakpoints. This method is useful because it describes the observed data and is not dependent on comparison with a pre-existing hypothesis regarding the distribution.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Vasarhelyi
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
mesh_terms: D001699:Biometry; D002871:Chromosome Banding; D002873:Chromosome Fragility; D015321:Gene Rearrangement; D006801:Humans; D008957:Models, Genetic; D011336:Probability