The present invention relates to systems, methods and
software arrangements for the detection of variations in the copy number of a
gene in a
genome. These systems, methods and
software arrangements are based on a simple prior model that uses a first process generating amplifications and deletions in the
genome, and a second process modifying the
signal obtained to account for the corrupting
noise inherent in the technical methodology used to scan the
genome. A Bayesian approach according to the present invention determines, e.g., the most plausible
hypothesis of regional changes in the genome and their associated copy number. The systems, methods, and
software arrangements can be are framed as optimization problems, in which a
score function is minimized. The
system, methods and software arrangements may be useful to assist the
scientific study, diagnosis and / or treatment of any
disease which has a genetic component, including but not limited to cancers and inherited diseases.