IP Library › Patent Application 18141009
Patent Application
App. No. 18/141,009

GENETIC SCREENING TO DETERMINE HEALTH RISKS ASSOCIATED WITH INTERACTING PHENOTYPES

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Quick Facts
Patent No.
US None
App. No.
18/141,009
Abstract

Systems and methods herein provide for identifying phenotypes that impact disease progression for carriers of genetic variants. One method includes identifying, from a larger population of gene sequences, a first plurality of gene sequences of probands having a genetic variant that is susceptible to contracting a primary phenotype. For each of a plurality of interacting phenotypes, the method includes identifying, from the first plurality of gene sequences, a second plurality of gene sequences of probands having the interacting phenotype, determining a difference between an odds ratio indicating a likelihood of probands having the primary phenotype for the second plurality of gene sequences and an odds ratio indicating a likelihood of probands having the primary phenotype for the first plurality of gene sequences, and selecting the interacting phenotype based on the difference. The method also includes identifying a risk of contracting the primary phenotype for each of the selected interacting phenotypes.

Claims (74)

1 . A method, comprising:

identifying, from a larger population of gene sequences, a first plurality of gene sequences of probands having a genetic variant that is susceptible to contracting a primary phenotype;

for each of a plurality of interacting phenotypes:

identifying, from the first plurality of gene sequences, a second plurality of gene sequences of probands having the interacting phenotype;

determining a difference between an odds ratio indicating a likelihood of probands having the primary phenotype for the second plurality of gene sequences and an odds ratio indicating a likelihood of probands having the primary phenotype for the first plurality of gene sequences; and

selecting the interacting phenotype based on the difference; and

identifying a risk of contracting the primary phenotype for each of the selected interacting phenotypes.

2 . The method of claim 1 , further comprising:

processing a gene sequence of a patient to determine that the gene sequence of the patient has the genetic variant that is susceptible to contracting the primary phenotype; and

determining a risk of the patient contracting the primary phenotype based on whether the patient has a selected interacting phenotype.

3 . The method of claim 1 , further comprising:

subdividing an interacting phenotype by:

determining a mean of a probability distribution of the interacting phenotype for the first plurality of gene sequences;

defining a first interacting phenotype comprising values outside one standard deviation higher than the mean; and

defining a second interacting phenotype comprising values outside one standard deviation lower than the mean.

4 . The method of claim 1 , further comprising:

selecting the interacting phenotype if a positive predictive value of the interacting phenotype contributing to the primary phenotype breaches a pre-determined threshold; and

selecting the interacting phenotype if a negative predictive value of the interacting phenotype contributing to the primary phenotype breaches another pre-determined threshold.

5 . The method of claim 1 , further comprising:

including an additional interacting phenotype to identify the second plurality of gene sequences for selection.

6 . The method of claim 5 , further comprising:

computing an odds ratio for the additional interacting phenotype.

7 . The method of claim 1 , further comprising:

performing a regression analysis to compute the odds ratios.

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

identifying, from a larger population of gene sequences, a first plurality of gene sequences of probands having a genetic variant that is susceptible to contracting a primary phenotype;

for each of a plurality of interacting phenotypes:

identifying, from the first plurality of gene sequences, a second plurality of gene sequences of probands having the interacting phenotype;

determining a difference between an odds ratio indicating a likelihood of probands having the primary phenotype for the second plurality of gene sequences and an odds ratio indicating a likelihood of probands having the primary phenotype for the first plurality of gene sequences; and

selecting the interacting phenotype based on the difference; and

identifying a risk of contracting the primary phenotype for each of the selected interacting phenotypes.

9 . The computer readable medium of claim 8 , wherein the method further comprises:

processing a gene sequence of a patient to determine that the gene sequence of the patient has the genetic variant that is susceptible to contracting the primary phenotype; and

determining a risk of the patient contracting the primary phenotype based on whether the patient has a selected interacting phenotype.

10 . The computer readable medium of claim 8 , wherein the method further comprises:

subdividing an interacting phenotype by:

determining a mean of a probability distribution of the interacting phenotype for the first plurality of gene sequences;

defining a first interacting phenotype comprising values outside one standard deviation higher than the mean; and

defining a second interacting phenotype comprising values outside one standard deviation lower than the mean.

11 . The computer readable medium of claim 8 , wherein the method further comprises:

selecting the interacting phenotype if a positive predictive value of the interacting phenotype contributing to the primary phenotype breaches a pre-determined threshold; and

selecting the interacting phenotype if a negative predictive value of the interacting phenotype contributing to the primary phenotype breaches another pre-determined threshold.

12 . The computer readable medium of claim 8 , wherein the method further comprises:

including an additional interacting phenotype to identify the second plurality of gene sequences for selection.

13 . The computer readable medium of claim 12 , wherein the method further comprises:

computing an odds ratio for the additional interacting phenotype.

14 . The computer readable medium of claim 8 , wherein the method further comprises:

performing a regression analysis to compute the odds ratios.

15 . A system, comprising:

a database of gene sequences of probands; and

a processor that:

identifies, from a larger population of the gene sequences, a first plurality of gene sequences of probands having a genetic variant that is susceptible to contracting a primary phenotype;

for each of a plurality of interacting phenotypes:

identifies, from the first plurality of gene sequences, a second plurality of gene sequences of probands having the interacting phenotype;

determines a difference between an odds ratio indicating a likelihood of probands having the primary phenotype for the second plurality of gene sequences and an odds ratio indicating a likelihood of probands having the primary phenotype for the first plurality of gene sequences; and

selects the interacting phenotype based on the difference; and

identifies a risk of contracting the primary phenotype for each of the selected interacting phenotypes.

16 . The system of claim 15 , wherein the processor further:

processes a gene sequence of a patient to determine that the gene sequence of the patient has the genetic variant that is susceptible to contracting the primary phenotype; and

determines a risk of the patient contracting the primary phenotype based on whether the patient has a selected interacting phenotype.

17 . The system of claim 15 , wherein the processor further:

subdivides an interacting phenotype by:

determines a mean of a probability distribution of the interacting phenotype for the first plurality of gene sequences;

defines a first interacting phenotype comprising values outside one standard deviation higher than the mean; and

defines a second interacting phenotype comprising values outside one standard deviation lower than the mean.

18 . The system of claim 15 , wherein the processor further:

selects the interacting phenotype if a positive predictive value of the interacting phenotype contributing to the primary phenotype breaches a pre-determined threshold; and

selects the interacting phenotype if a negative predictive value of the interacting phenotype contributing to the primary phenotype breaches another pre-determined threshold.

19 . The system of claim 15 , wherein the processor further:

includes an additional interacting phenotype to identify the second plurality of gene sequences for selection.

20 . The system of claim 19 , wherein the processor further:

computes an odds ratio for the additional interacting phenotype.

21 . The system of claim 15 , wherein the processor further:

performs a regression analysis to compute the odds ratios.

Assignments (3)
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 Aug 24, 2023
From: CIRULLI ROGERS, ELIZABETH
To: HELIX, INC.
Reel/Frame 064712/0174 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded May 2, 2023
From: CIRULLI ROGERS, ELIZABETH
To: HELIX
Reel/Frame 063518/0275 →