The invention provides a system and method for describing polymorphisms or genetic variants based on information about mutations and relationships among them. The invention uses object-oriented concepts to describe variants as variant objects and relations among those variants as variant relation object, each object being an instance of an abstract class of genomic feature and able to contain any number of other objects. Information about genetic disorders is stored in association with the object that represents the pathogenic variant. Genetic test results are used to access corresponding objects to provide a report based on variants or polymorphisms in a patient\'s genetic material.
Nizzari; Marcia M. (Needham, MA), Breton; Benjamin H. (Woburn, MA), Tefft; David L. (Malden, MA), Haurie; Xavier S. (Belmont, MA)
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