Admixture Generation Estimation via Recombination Models

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Solution Overview

Problem

Traditional genealogical and genetics-based ancestry studies face limitations in tracing ancestral origins, especially for smaller genetic contributions from distant ancestors, as existing tools are geared towards population studies rather than individual ancestry tracing.

Innovation Solution

A computer-based system and process for estimating admixture generation, utilizing a recombination model and genetic ancestry evaluation engine to determine the most recent generation of a non-admixed ancestor from a specific geographical region by analyzing an individual's genome and comparing it with reference models, providing user-friendly interface for displaying results.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If traditional genealogical and ancestry studies rely on surnames and historical records, then ancestry information can be obtained, but the completeness and accuracy are limited due to incomplete records especially for distant ancestors

Engineering Contradiction:

Improveancestry tracing accuracyVSAvoidancestry record completeness

Core Design Contradiction:

Measurement precisionVSLoss of information

Solution Approach 1:

The patent replaces traditional mechanical/genealogical record-based ancestry tracing with genetic-based analysis. By using DNA genotyping and comparing genetic markers against reference populations, the system substitutes historical record examination with biological evidence, achieving more accurate and complete ancestry information especially for distant ancestors where records are incomplete.

Inventive Principle:

Principle #28Mechanics substitution (Replace mechanical system)

2Quantity of substance

If genetics-based ancestry estimation tools analyze an individual's genome and provide detailed ancestry percentages, then comprehensive ancestry information is obtained, but the tools are geared towards population studies rather than individual ancestry tracing

Engineering Contradiction:

Improveancestry information detailVSAvoidtool applicability

Core Design Contradiction:

Quantity of substanceVSAdaptability or versatility

Solution Approach 1:

The patent implements a dynamic, multi-level analysis system that adapts to different user needs. The system provides both population-level ancestry composition analysis and individual-specific ancestry tracing capabilities. It dynamically adjusts between providing broad geographical ancestry regions and specific ancestral origins based on the individual's genetic data, making the tool versatile for both research and personal genealogy applications.

Inventive Principle:

Principle #15Dynamics

Solution Approach 2:

The patent segments the ancestry analysis into multiple hierarchical levels: first determining broad geographical ancestry regions, then progressively refining to specific ancestral origins. This segmentation allows the system to provide comprehensive ancestry information while maintaining adaptability for different user purposes, whether population studies or individual genealogy.

Inventive Principle:

Principle #1Segmentation

3Quantity of substance

If ancestry proportion estimates are provided for multiple geographical regions, then comprehensive ancestry composition is obtained, but it becomes difficult to trace ancestries associated with smaller percentages as they may go back many generations

Engineering Contradiction:

Improveancestry composition completenessVSAvoiddistant ancestry tracing difficulty

Core Design Contradiction:

Quantity of substanceVSDifficulty of detecting and measuring

Solution Approach 1:

The patent applies preliminary action by first establishing the individual's ancestry composition across multiple geographical regions, then using this information to guide subsequent detailed ancestry tracing. The system preliminarily identifies ancestral regions and then performs targeted analysis to trace specific ancestral origins, making it easier to detect and measure even small ancestry contributions from distant generations.

Inventive Principle:

Principle #10Preliminary action

Solution Approach 2:

The patent uses reference populations as intermediaries to bridge the gap between an individual's genetic data and ancestral origins. By comparing the individual's genetic markers against genetically characterized reference populations from specific geographical regions, the system can trace even small ancestry contributions, using these reference groups as mediators to interpret distant ancestry signals.

Inventive Principle:

Principle #24Intermediary (Mediator)

Data Source

PatentUS20230142864A1Estimation of Admixture Generation

Publication Date: 2023.05.11 23ANDME GENOMICS LLC

AI summary

Admixture generation determination includes: obtaining ancestry assignment information associated with an individual's genotype data, the ancestry assignment information at least indicating that a portion of the individual's genotype data is deemed to be associated with a specific ancestry; determining the individual's genetic ancestry summary data corresponding to the specific ancestry; estimating an admixture generation associated with the specific ancestry, the admixture generation indicating a most recent generation or a most recent generation range from which the individual has at least one non-admixed ancestor of the specific ancestry, the estimation including a maximum likelihood determination based at least in part on the individual's genetic ancestry summary data and a recombination model; and outputting the estimated admixture generation.