US 2020/0027526 A1 · SYSTEMS AND METHODS FOR CREATION OF PERSONAL GENETIC PROFILE PRODUCTS

Abstract

Presented herein are systems and methods related to a scalable and platform-agnostic framework that facilitates the creation of personal genetic profile products. In particular, in certain embodiments, the systems and methods described herein facilitate the creation, storage, organization, and maintenance (e.g. updating) of data corresponding to the relationships between particular variations that may occur in an individual's DNA (e.g. variants of different specific SNPs) and the health-related phenotypes that they influence. The data stored in this manner can be used as a template not only for presenting personal genetic profile assessments to an individual in an informative and user-friendly manner, but also for the rapid, automated creation of personal genetic profile assessments of a plurality of individuals from data corresponding to genotyping measurements of biological samples provided by the individuals.

Claims70

Dependent claims

A method for creating personal genetic profile products that correspond to an assessment of an individual's genetic profile via a graphical user interface (GUI), the method comprising:

(a) presenting, by a processor of a computing device, a graphical user interface element for creation of a gene object corresponding to a specific gene, wherein the gene object is a data structure comprising:
one or more SNP objects, each SNP object corresponding to a specific SNP occurring in or nearby the specific gene with which the gene object is associated, and each SNP object comprising:
(i) a SNP reference;
and
(ii) for each of one or more variants of the specific SNP to which the SNP object corresponds:
a measurement outcome associated with the variant;
a qualifier associated with the variant;
and
optionally, additional information associated with the variant;
and
(iii) optionally, additional information associated with the SNP object;
and
(b) receiving, by the processor, via the graphical user interface element, a SNP object associated with the gene object;
(c) associating, by the processor, the received SNP object with the gene object;
and
(d) storing, by the processor, the gene object for further retrieval and/or updating by the processor via the GUI.

13 more elements

A method of creating and/or updating personal genetic profile assessments for a plurality of individuals, the method comprising:

receiving, by a processor of a computing device, genotyping data collected from a plurality of biological samples, each biological sample having been taken from a particular individual of the plurality of individuals, wherein the genotyping data comprises, for each biological sample, one or more genotyping measurements of one or more SNPs, each SNP associated with one or more genes;
and
for each individual associated with each biological sample, for each SNP:
(a) identifying, by the processor, a gene object corresponding to a target gene of the one or more genes with which the SNP is associated and a SNP object of the gene object corresponding to the SNP;
(b) receiving, by the processor, a determination of a particular variant of the SNP that the individual has and determining a qualifier associated with the particular variant;
and
(c) storing, by the processor, within the personal genetic profile assessment of the individual:
(i) a gene identifier associated with the measured SNP, wherein the gene identifier identifies the target gene;
(ii) a SNP reference that identifies the measured SNP, wherein the SNP reference is associated with the gene identifier;
(iii) a measurement outcome that identifies the particular variant of the SNP that the individual has, wherein the measurement outcome is associated with the SNP reference;
and
(iv) the qualifier associated with the particular variant, wherein the qualifier is associated with the SNP reference.

9 more elements

A system for creating personal genetic profile products that correspond to an assessment of an individual's genetic profile via a graphical user interface (GUI), the system comprising:

a processor;
and
a memory having instructions stored thereon, wherein the instructions, when executed by the processor, cause the processor to:
(a) present a graphical user interface element for creation of a gene object corresponding to a specific gene, wherein the gene object is a data structure comprising:
one or more SNP objects, each SNP object corresponding to a specific SNP occurring in or nearby the specific gene with which the gene object is associated, and each SNP object comprising:
(i) a SNP reference;
and
(ii) for each of one or more variants of the specific SNP to which the SNP object corresponds:
a measurement outcome associated with the variant;
a qualifier associated with the variant;
and
optionally, additional information associated with the variant;
and
(iii) optionally, additional information associated with the SNP object;
and
(b) receive, via the graphical user interface element, a SNP object associated with the gene object;
(c) associate the received SNP object with the gene object;
and
(d) store the gene object for further retrieval and/or updating by the processor via the GUI.

16 more elements

A system for creating and/or updating personal genetic profile assessments for a plurality of individuals, the system comprising:

a processor;
and
a memory having instructions stored thereon, wherein the instructions, when executed by the processor, cause the processor to:
receive genotyping data collected from a plurality of biological samples, each biological sample having been taken from a particular individual of the plurality of individuals, wherein the genotyping data comprises, for each biological sample, one or more genotyping measurements of one or more SNPs, each SNP associated with one or more genes;
and
for each individual associated with each biological sample, for each SNP:
(a) identify a gene object corresponding to a target gene of the one or more genes with which the SNP is associated and a SNP object of the gene object corresponding to the SNP;
(b) receive a determination of a particular variant of the SNP that the individual has and determining a qualifier associated with the particular variant;
and
(c) store within the personal genetic profile assessment of the individual:
(i) a gene identifier associated with the measured SNP, wherein the gene identifier identifies the target gene;
(ii) a SNP reference that identifies the measured SNP, wherein the SNP reference is associated with the gene identifier;
(iii) a measurement outcome that identifies the particular variant of the SNP that the individual has, wherein the measurement outcome is associated with the SNP reference;
and
(iv) the qualifier associated with the particular variant, wherein the qualifier is associated with the SNP reference.

12 more elements

Dependencies are inferred from the claim text.

Systems and methods for creation of personal genetic profile products

Life of this patent

Systems and methods for creation of personal genetic profile products

Life of this patent

Abstract

Claims70