Variant database

摘要

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.

主权项

1. A method of providing a description of a variant in a patient's genome, the method comprising:
receiving genetic data relating to the patient, the data representing at least a first mutation and a second mutation; retrieving from one or more computer-readable storage devices a first variant object comprising a description of the first mutation as a first variant of a reference and a second variant object comprising a description of the second mutation as a second variant of the reference, each of the first and second variant objects being an instance of an abstract class of a genomic feature; determining a relationship between the first and second mutations; retrieving a third object comprising a description of the relationship, the third object also being an instance of the abstract class; and providing a description of the variant based on the third object, wherein each object inherits a start position attribute from the abstract class.