IP Library › Patent Application 16033983
Patent Application
App. No. 16/033,983

GRANULAR ELECTION OF PREDICTIVE POLYGENIC MODELS

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Quick Facts
Patent No.
US None
App. No.
16/033,983
Abstract

Systems and methods are provided for selecting from among polygenic models that predict characteristics of individuals. One embodiment is a genetic prediction server that includes a memory that stores polygenic models which predict characteristics of individuals based on genetic variants of the individuals, including a set of polygenic models for a characteristic that each perform a different analysis of genetic variants when making a prediction. The server also includes a controller that receives an indication of genetic variants of an individual, determines that the individual belongs to a demographic, and selects, based on the demographic, a polygenic model from the set to predict the characteristic for the individual.

Claims (66)

1 . A system comprising:

a genetic prediction server comprising:

a memory that stores polygenic models which predict characteristics of individuals based on genetic variants of the individuals, including a set of polygenic models for a characteristic that each perform a different analysis of genetic variants when making a prediction; and

a controller that receives an indication of genetic variants of an individual, determines that the individual belongs to a demographic, and selects, based on the demographic, a polygenic model from the set to predict the characteristic for the individual.

2 . The system of claim 1 wherein:

each polygenic model in the set comprises a machine learning model that has been trained using known genotypes and known characteristics for members of a different demographic, and

the controller selects a machine learning model that has been trained using known genotypes and known characteristics for members of the demographic.

3 . The system of claim 1 wherein:

the controller determines that the individual belongs to multiple demographics, and selects the polygenic model based on at least two of the multiple demographics.

4 . The system of claim 3 wherein:

the controller determines a category for each of the multiple demographics, assigns a rank to each category, determines that the polygenic model has been calibrated for the demographic, determines that the demographic is within a category having a highest rank, and selects the polygenic model in response to determining that the demographic is within the category having the highest rank.

5 . The system of claim 3 wherein:

the controller selects the polygenic model in response to determining that the polygenic model has been calibrated for members belonging to the multiple demographics.

6 . The system of claim 1 wherein:

the indication provides genetic variants for less than a whole genome of the individual, and

the controller prevents selection of polygenic models that use different genetic variants as input than were provided in the indication.

7 . The system of claim 1 wherein:

the indication reports the genetic variants of the individual in the form of a deoxyribonucleic acid (DNA) microarray, a whole exome, or a whole genome, and

each polygenic model uses genetic variants for a DNA microarray, a whole exome, or a whole genome as input.

8 . A method comprising:

identifying polygenic models which predict characteristics of individuals based on genetic variants of the individuals, including a set of polygenic models for a characteristic that each perform a different analysis of genetic variants when making a prediction;

receiving an indication of genetic variants of an individual;

determining that the individual belongs to a demographic; and

selecting, based on the demographic, a polygenic model from the set to predict the characteristic for the individual.

9 . The method of claim 8 wherein:

each polygenic model in the set comprises a machine learning model that has been trained using known genotypes and known characteristics for members of a different demographic, and the method further comprises:

selecting a machine learning model that has been trained using known genotypes and known characteristics for members of the demographic.

10 . The method of claim 8 further comprising:

determining that the individual belongs to multiple demographics, wherein

selecting the polygenic model is based on at least two of the multiple demographics.

11 . The method of claim 10 further comprising:

determining a category for each of the multiple demographics;

assigning a rank to each category;

determining that the polygenic model has been calibrated for the demographic;

determining that the demographic is within a category having a highest rank; and

selecting the polygenic model in response to determining that the demographic is within a category having the highest rank.

12 . The method of claim 10 wherein:

selecting the polygenic model is performed in response to determining that the polygenic model has been calibrated for a population belonging to the multiple demographics.

13 . The method of claim 8 wherein:

the indication provides genetic variants for less than a whole genome of the individual, and the method further comprises:

preventing selection of polygenic models that use different genetic variants as input than were provided in the indication.

14 . The method of claim 8 wherein:

the indication reports the genetic variants of the individual in the form of a deoxyribonucleic acid (DNA) microarray, a whole exome, or a whole genome, and

each polygenic model uses genetic variants for a DNA microarray, a whole exome, or a whole genome as input.

15 . A non-transitory computer readable medium embodying programmed instructions which, when executed by a processor, are operable for performing a method comprising:

receiving an indication of genetic variants of an individual;

identifying polygenic models which predict characteristics of individuals based on genetic variants of the individuals, including a set of polygenic models for a characteristic that each perform a different analysis of genetic variants when making a prediction;

determining that the individual belongs to a demographic; and

selecting, based on the demographic, a polygenic model from the set to predict the characteristic for the individual.

16 . The medium of claim 15 wherein:

each polygenic model in the set comprises a machine learning model that has been trained using known genotypes and known characteristics for members of a different demographic, and the method further comprises:

selecting a machine learning model that has been trained using known genotypes and known characteristics for members of the demographic.

17 . The medium of claim 15 wherein:

determining that the individual belongs to multiple demographics, wherein

selecting the polygenic model is based on at least two of the multiple demographics.

18 . The medium of claim 17 wherein the method further comprises:

determining a category for each of the multiple demographics;

assigning a rank to each category;

determining that the polygenic model has been calibrated for the demographic;

determining that the demographic is within a category having a highest rank; and

selecting the polygenic model in response to determining that the demographic is within a category having the highest rank.

19 . The medium of claim 17 wherein:

selecting the polygenic model is performed in response to determining that the polygenic model has been calibrated for a population belonging to the multiple demographics.

20 . The medium of claim 15 wherein:

the indication provides genetic variants for less than a whole genome of the individual, and the method further comprises:

preventing selection of polygenic models that use different genetic variants as input than were provided in the indication.

Assignments (4)
CERTIFICATE OF CHANGE OF CORPORATE ADDRESS Recorded Feb 28, 2025
From: HELIX, INC.
To: HELIX, INC.
Reel/Frame 070703/0313 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded May 3, 2023
From: HELIX OPCO, LLC
To: HELIX, INC.
Reel/Frame 063518/0234 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 23, 2019
From: HUMAN CODE, INC.
To: HELIX OPCO, LLC
Reel/Frame 051358/0007 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Jul 12, 2018
From: GLODE, CHRISTOPHER M; TRUNCK, RYAN P; POWERS, RANI K
To: HELIX OPCO, LLC
Reel/Frame 046572/0281 →