Computerized Method and System for Inferring Genetic Findings for a Patient

摘要

A method and system in a computing environment for inferring genetic findings for a patient is provided. The method includes receiving a request for genetic findings for a person from another application or a user. The method further includes inquiring as to whether the person has the genetic findings. If not, the method automatically provides inferred genetic findings for the person. The inferred genetic findings are calculated using genetic findings for family members of the patient, linkage analysis, haplotype analysis, semantic test results for the person and/or population genetics information.

主权项

1. One or more computer readable media, residing on computer executable instructions that, when executed by a processing unit, perform a method for using a linkage analysis to derive inferred genetic test results, wherein the method comprises:
detecting a request for genetic test results gathered for a particular gene; upon failing to find the gathered genetic test results, inferring genetic test results for the particular gene by carrying out a linkage analysis, wherein the linkage analysis comprises:
(a) using a genetic map to identify a candidate gene that is located within physical proximity to the particular gene, wherein the physically proximate locations of the candidate gene and the particular gene indicate that the genes are co-inherited; and(b) attempting to gather genetic test results for the candidate gene; and initiating a communication that informs a user of the inferred genetic test results.