Hybrid Reference Genome Generation for Genetic Population Composition Analysis

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Solution Overview

Problem

Current methods for determining genetic population composition, especially in hybrids, are inaccurate due to limitations in representing genetic makeup and ancestry analysis, as they rely on standard genomes and chromosome painting techniques that do not account for all possible genotypes, leading to incorrect classification.

Innovation Solution

A system and method that selects population representative individuals based on genotype frequency and genetic similarity, generates hybrid data through repetitive hybridization, and determines genetic population composition by measuring similarity between hybrid and test target individuals, using a formula to calculate the genetic composition.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Ease of operation

If standard genome and chromosome painting techniques are used for ancestry analysis, then the analysis process is simplified, but the measurement precision of genetic population composition is degraded

Engineering Contradiction:
Improveancestry analysis processVSAvoidgenetic population composition
Core Design Contradiction:
Ease of operationVSMeasurement precision

Solution Approach 1:

The patent creates virtual hybrid reference genomes in advance through simulated crossbreeding between population representatives. This preliminary action provides accurate hybrid reference data before actual ancestry analysis, enabling precise measurement of genetic population composition in hybrid individuals without relying on inaccurate standard genome methods.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent generates virtual copies of hybrid genomes by simulating crossbreeding processes. These copied hybrid reference genomes replicate the actual genetic structure of hybrid populations, allowing accurate comparison and measurement of genetic composition without requiring physical hybrid samples for every analysis.

Inventive Principle:
Principle #26Copying

2Measurement precision

If population representative individuals are selected based on genotype frequency and virtual hybridization is performed, then the measurement precision of hybrid genetic composition is improved, but the device complexity increases

Engineering Contradiction:
Improvehybrid genetic compositionVSAvoidgenetic analysis system
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The system automatically selects population representative individuals based on genotype frequency calculations and performs virtual hybridization simulations without manual intervention. The algorithm self-manages the complex processes of representative selection, hybrid genome generation, and ancestry analysis, reducing the need for manual system configuration despite the increased computational complexity.

Inventive Principle:
Principle #25Self-service

Solution Approach 2:

The patent changes the fundamental parameter of reference genome selection from using standard population genomes to using virtually generated hybrid reference genomes. This parameter change transforms the analysis approach to inherently handle hybrid individuals, improving measurement precision while the system manages the computational complexity through automated parameter optimization.

Inventive Principle:
Principle #35Parameter changes

3Ease of operation

If conventional chromosome painting techniques are used, then the ease of operation is maintained, but the reliability of hybrid genetic information determination is degraded

Engineering Contradiction:
Improvegenetic analysis methodVSAvoidhybrid genetic information
Core Design Contradiction:
Ease of operationVSReliability

Solution Approach 1:

The patent introduces virtual hybrid reference genomes as an intermediary between standard population genomes and actual hybrid samples. This intermediary provides the missing hybrid genetic information that neither standard population genomes nor chromosome painting techniques can accurately represent, enabling reliable determination of hybrid genetic composition while maintaining automated analysis processes.

Inventive Principle:
Principle #24Intermediary (Mediator)

Data Source

PatentUS20240282464A1System and method for determing gemetic population composition using hybrid specific reference genetic data generation for population, breed, disease groups, and species and analysis for determinig genetic components
Publication Date: 2024.08.22 CLINOMICS CO
  • US20240282464A1 patent drawing
  • US20240282464A1 patent drawing
  • US20240282464A1 patent drawing

AI summary

The present invention relates to a system and method for generating specific reference genetic data of mixture of population and disease population or breed or hybrid and determining genetic population composition, and the-be-solved task is to create a genome representing the population, create a hybrid representative through a crossbreeding simulation between the representatives, measure the genetic similarity between the new data between the representative of the population and the representative of the hybrid, and determine the composition of the population, thereby determining the genetic population composition of test target individuals. As an example, provided is a system for determining genetic population composition comprising a population representative individual selection unit for measuring the frequency of occurrence of preselected genotypes for individuals in homogenous populations and selecting a population representative individuals for the respective homogenous populations according to the measured frequency of occurrence, and a genetic population composition determination unit for generating hybrid data of the population representative individuals for the respective generation through repetitive hybridization between the population representative individuals and determining the genetic population composition of the test target individual according to the genetic similarity between the hybrid data and the test target individual.