US2017124270A1PendingUtilityA1

Computerized Method and System for Inferring Genetic Findings for a Patient

Assignee: CERNER INNOVATION INCPriority: Oct 6, 2003Filed: Dec 29, 2016Published: May 4, 2017
Est. expiryOct 6, 2023(expired)· nominal 20-yr term from priority
G16H 50/70G16H 50/30G16B 20/00G16H 10/60G16H 50/20G06N 7/01G06F 19/324G06F 19/18G06F 19/3443G06F 19/345G06F 19/3431G06F 19/322G06F 19/24G06N 7/005G16B 40/00G16B 20/40G16B 20/20G16H 40/67
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Claims

Abstract

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.

Claims

exact text as granted — not AI-modified
The invention claimed is: 
     
         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.   
     
     
         2 . The method of  claim 1 , wherein a position of the particular gene and a position of the candidate gene on a common chromosome indicates that the genes are physically proximate.

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