Pedigree Determination Using IBD Segments and Age Data

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Solution Overview

Problem

Existing methods for determining pedigrees using genetic data are labor-intensive, error-prone, and limited in accuracy and efficiency, especially when dealing with large and complex genetic relationships.

Innovation Solution

The development of computer-implemented methods and systems that utilize identity-by-descent (IBD) data to determine and visualize pedigree relationships among genetically related individuals, incorporating IBD segments and age information to improve accuracy and efficiency, and employing probabilistic relationship models and machine learning to infer relationships and construct pedigree graphs.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If manual reconstruction of pedigrees using pairwise relationship comparisons is performed, then pedigree relationships can be determined, but the process becomes labor-intensive and error-prone

Engineering Contradiction:

Improvepedigree determination accuracyVSAvoidtime consumption

Core Design Contradiction:

Measurement precisionVSLoss of time

Solution Approach 1:

The patent replaces manual mechanical reconstruction processes with automated computer-implemented methods that use IBD segment analysis and probabilistic relationship models to determine pedigree relationships, eliminating labor-intensive pairwise comparisons while maintaining or improving accuracy

Inventive Principle:

Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The patent changes the fundamental parameters used for pedigree determination from traditional pairwise relationship comparisons to IBD segment-based analysis combined with age information and probabilistic models, enabling automated processing with high accuracy

Inventive Principle:

Principle #35Parameter changes

2Extent of automation

If computer tools using IBD genetic data are used to construct pedigrees, then automation is improved, but accuracy and efficiency remain limited

Engineering Contradiction:

Improvepedigree construction automationVSAvoidpedigree determination accuracy

Core Design Contradiction:

Extent of automationVSMeasurement precision

Solution Approach 1:

The patent merges multiple data sources including IBD segment data, age information, and probabilistic relationship models into a unified automated pedigree construction system, combining multiple factors to achieve both automation and high accuracy simultaneously

Inventive Principle:

Principle #5Merging (Combining)

Solution Approach 2:

The patent introduces probabilistic relationship models as intermediaries that process IBD segment data and age information to infer pedigree relationships, enabling automated construction while maintaining high accuracy through statistical reasoning

Inventive Principle:

Principle #24Intermediary (Mediator)

3Productivity

If existing computer methods are used to determine pedigrees, then some automation is achieved, but computational load remains high for large and complex pedigrees

Engineering Contradiction:

Improvepedigree construction efficiencyVSAvoidcomputational resource consumption

Core Design Contradiction:

ProductivityVSUse of energy by moving object

Solution Approach 1:

The patent segments the pedigree construction process into modular components including IBD segment identification, age-based relationship filtering, and probabilistic model application, enabling efficient processing of large and complex pedigrees through divide-and-conquer strategies

Inventive Principle:

Principle #1Segmentation

4Loss of information

If traditional methods are used to distinguish between different relationships, then simple pedigrees can be analyzed, but distinction between complex relationships becomes difficult

Engineering Contradiction:

Improverelationship distinction capabilityVSAvoidpedigree complexity

Core Design Contradiction:

Loss of informationVSDevice complexity

Solution Approach 1:

The patent adds multiple dimensions to relationship analysis by combining IBD segment data, age information, and probabilistic relationship models, enabling clear distinction between complex relationships through multi-dimensional characterization rather than single-factor analysis

Inventive Principle:

Principle #17Another dimension (Dimensionality change)

Data Source

PatentUS20250014241A1Methods and Systems for Determining and Displaying Pedigrees

Publication Date: 2025.01.09 23ANDME GENOMICS LLC

AI summary

The disclosed embodiments concern methods, apparatus, systems and computer program products for determining and displaying pedigrees based on IBD data. Some implementations use a probabilistic relationship model to obtain various likelihoods of various potential relationships based on pairwise IBD data and pairwise age data. Some implementations build large pedigrees by combining smaller pedigrees. Some implementations display pedigree graphs with various features that are informative and easy to understand.