IP Library › Granted Patent US 9,922,285
Granted Patent B1
US 9,922,285 · App. 15/649,506 · Granted Mar 20, 2018

Predictive assignments that relate to genetic information and leverage machine learning models

Inventors: Christopher M. Glode (Denver, CO); Ryan P. Trunck (Denver, CO); Rani K. Powers (Broomfield, CO); Jennifer L. Lescallett (Sunderland, MD)
Assignee: HumanCode, Inc.
G06N3/08G06N3/0445G06N5/04
View Patent ↗
Loading inventors, assignments & file history…
Monitor This Case
Get email alerts when status or documents change.
Order Certified Copies
Most orders are placed with the USPTO same day — all within 24 business hours.
Order via The Patent Place →
Pre-filled with this patent's details
Quick Facts
Patent No.
US 9,922,285
App. No.
15/649,506
Granted
Mar 20, 2018
Kind
B1
Abstract

Systems and methods are provided for performing predictive assignments pertaining to genetic information. One embodiment is a system that includes a genetic prediction server. The genetic prediction server includes an interface that acquires records that each indicate one or more genetic variants determined to exist within an individual, and a controller. The controller selects one or more machine learning models that utilize the genetic variants as input, and loads the machine learning models. For each individual in the records: the controller predictively assigns at least one characteristic to that individual by operating the machine learning models based on at least one genetic variant indicated in the records for that individual. The controller also generates a report indicating at least one predictively assigned characteristic for at least one individual, and transmits a command via the interface for presenting the report at a display.

Claims (52)

1. A system comprising:

a genetic prediction server comprising:

an interface that acquires records that each indicate one or more genetic variants determined to exist within an individual; and

a controller that selects one or more machine learning models that utilize genetic variants as input, loads the one or more machine learning models, assigns a dimensional coordinate to each genetic variant used as an input to the one or more machine learning models, and for each individual in the records: predictively assigns at least one characteristic to that individual by operating the one or more machine learning models, utilizing at least one genetic variant indicated in the records for that individual as input to the one or more machine learning models, wherein

each of the one or more machine learning models comprises a multi-layer neural network, each layer comprising multiple nodes, nodes in different layers are coupled via weighted connections, each node in an input layer of a neural network corresponds with a genetic variant, each node in an output layer of a neural network corresponds with a characteristic, and each neural network includes a convolutional layer that convolves about genetic variants that are used as input for the neural network, based on the dimensional coordinates of genetic variants;

the controller generates a report indicating at least one predictively assigned characteristic for at least one individual, and transmits a command via the interface for presenting the report at a display,

the controller analyzes input indicating accuracy of a predictively assigned characteristic, and determines a score for one of the one or more machine learning models based on the analyzed input and a cost function, and

the controller revises the weighted connections based on the cost function for each neural network.

2. The system of claim 1 wherein:

for each individual, the one or more machine learning models predictively assign characteristics to the individual that are distinct from a phenotype that is defined by genetic variants that are already indicated in the records for that individual.

3. The system of claim 1 wherein:

the controller determines a confidence value for each characteristic based on output from the one or more machine learning models, compares the confidence value to a confidence threshold for that characteristic, and predictively assigns a characteristic to an individual if the confidence value for that characteristic exceeds the confidence threshold for that characteristic.

4. The system of claim 1 wherein:

each machine learning model corresponds with a different characteristic; and

each machine learning model utilizes a different combination of genetic variants as input.

5. A method comprising:

acquiring records that each indicate one or more genetic variants determined to exist within an individual;

selecting one or more machine learning models that utilize genetic variants as input;

loading the one or more machine learning models;

for each of the one or more machine learning models, assigning a dimensional coordinate to each genetic variant used as an input to that machine learning model;

for each individual in the records, predictively assigning at least one characteristic to that individual by operating the one or more machine learning models, utilizing at least one genetic variant indicated in the records for that individual as input to the one or more machine learning models, wherein each of the one or more machine learning models comprises a multi-layer neural network, each layer comprising multiple nodes, nodes in different layers are coupled via weighted connections, each node in an input layer of a neural network corresponds with a genetic variant, each node in an output layer of a neural network corresponds with a characteristic, and each neural network includes a convolutional layer that convolves about genetic variants, based on the dimensional coordinates of genetic variants;

generating a report indicating at least one predictively assigned characteristic for at least one individual;

transmitting a command for presenting the report at a display;

analyzing input indicating accuracy of a predictively assigned characteristic;

determining a score for one of the one or more machine learning models based on the analyzed input and a cost function; and

revising the weighted connections based on the cost function.

6. The method of claim 5 wherein:

for each individual, the one or more machine learning models predictively assign characteristics to the individual that are distinct from a phenotype that is defined by genetic variants that are already indicated in the records for that individual.

7. The method of claim 5 further comprising:

determining a confidence value for each characteristic based on output from the one or more machine learning models;

comparing the confidence value to a confidence threshold for that characteristic; and

predictively assigning a characteristic to an individual if the confidence value for that characteristic exceeds the confidence threshold for that characteristic.

8. The method of claim 5 wherein:

each machine learning model corresponds with a different characteristic; and

each machine learning model utilizes a different combination of genetic variants as input.

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

acquiring records that each indicate one or more genetic variants determined to exist within an individual;

selecting one or more machine learning models that utilize genetic variants as input;

loading the one or more machine learning models;

for each of the one or more machine learning models, assigning a dimensional coordinate to each genetic variant used as an input to that machine learning model;

for each individual in the records, predictively assigning at least one characteristic to that individual by operating the one or more machine learning models, utilizing at least one genetic variant indicated in the records for that individual as input to the one or more machine learning models, wherein each of the one or more machine learning models comprises a multi-layer neural network, each layer comprising multiple nodes, nodes in different layers are coupled via weighted connections, each node in an input layer of a neural network corresponds with a genetic variant, each node in an output layer of a neural network corresponds with a characteristic, and each neural network includes a convolutional layer that convolves about genetic variants, based on the dimensional coordinates of genetic variants;

generating a report indicating at least one predictively assigned characteristic for at least one individual;

transmitting a command for presenting the report at a display;

analyzing input indicating accuracy of a predictively assigned characteristic;

determining a score for one of the one or more machine learning models based on the analyzed input and a cost function; and

revising the weighted connections based on the cost function.

10. The medium of claim 9 wherein:

for each individual, the one or more machine learning models predictively assign characteristics to the individual that are distinct from a phenotype that is defined by genetic variants that are already indicated in the records for that individual.

11. The medium of claim 9 wherein the method further comprises:

determining a confidence value for each characteristic based on output from the one or more machine learning models;

comparing the confidence value to a confidence threshold for that characteristic; and

predictively assigning a characteristic to an individual if the confidence value for that characteristic exceeds the confidence threshold for that characteristic.

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 19, 2017
From: GLODE, CHRISTOPHER M; TRUNCK, RYAN P; POWERS, RANI K; LESCALLETT, JENNIFER L
To: HUMANCODE, INC.
Reel/Frame 043044/0163 →