Genomic Data Image Representations for Reliable Predictive Analysis

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Solution Overview

Problem

Existing predictive data analysis systems are inefficient and unreliable in handling high-dimensional feature spaces, particularly in domains like genomic data, which includes complex inputs such as SNP data, copy-number variations, and epigenetic data, leading to a need for improved representation and processing methods.

Innovation Solution

Generating image representations of input features based on genetic variant identifiers, using tensor representations and positional encoding maps, and employing machine learning models like CNNs for efficient and reliable predictive data analysis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If existing predictive data analysis systems process high-dimensional genomic data, then analysis coverage is comprehensive, but computational efficiency deteriorates and reliability decreases

Engineering Contradiction:
Improvepredictive reliabilityVSAvoidcomputational efficiency
Core Design Contradiction:
ReliabilityVSProductivity

Solution Approach 1:

The patent transforms high-dimensional genomic feature data into two-dimensional image representations, where genetic variants are mapped to spatial positions and feature values are encoded as visual properties (intensity, color, texture). This dimensional transformation enables the use of efficient image processing algorithms and convolutional neural networks, achieving both computational efficiency and predictive reliability simultaneously.

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

Solution Approach 2:

The patent introduces image representations as an intermediary format between raw genomic data and predictive analysis models. This intermediary transformation layer converts complex high-dimensional features into visually structured data that can be processed by efficient image-based machine learning algorithms, resolving the contradiction between comprehensive analysis and computational efficiency.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Measurement precision

If high-dimensional feature spaces are processed using traditional methods, then all features are analyzed, but processing time and computational resources increase significantly

Engineering Contradiction:
Improveanalysis accuracyVSAvoidprocessing time
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent replaces traditional mechanical data processing approaches with image-based computational methods. By encoding genomic features as visual representations, the system leverages parallel processing capabilities of image computation and GPU-accelerated convolutional operations, dramatically reducing processing time while maintaining analysis accuracy.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The transformation of high-dimensional features into 2D image space enables the application of efficient image processing techniques that operate in parallel, reducing the computational complexity from exponential to polynomial time while preserving measurement precision through careful encoding of feature relationships.

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

3Adaptability or versatility

If complex genomic data structures are used, then data representation is comprehensive, but system complexity increases

Engineering Contradiction:
Improvedata representation capabilityVSAvoidsystem complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent creates a universal image representation framework that can handle multiple types of genomic data (SNPs, copy-number variations, epigenetic marks) through a single unified encoding scheme. This universal approach simplifies the system architecture by providing a common processing pipeline for diverse data types, reducing overall system complexity while maintaining comprehensive representation capability.

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent changes the parameter space from complex nested data structures to standardized image parameters (pixel intensity, color channels, spatial coordinates). This parameter transformation simplifies data handling and processing while preserving the comprehensive representation of genomic features through carefully designed encoding schemes that map biological concepts to visual properties.

Inventive Principle:
Principle #35Parameter changes

Data Source

PatentUS12406413B2Predictive data analysis using image representations of genomic data
Publication Date: 2025.09.02 OPTUM SERVICES IRELAND LTD
  • US12406413B2 patent drawing
  • US12406413B2 patent drawing
  • US12406413B2 patent drawing

AI summary

There is a need for more effective and efficient predictive data analysis solutions and/or more effective and efficient solutions for generating image representations of genetic variant data. In one example, embodiments comprise receiving an input feature, generating one or more image representations of the input feature, generating a tensor representation of the one or more image representations, generating a plurality of positional encoding maps, generating an image-based prediction based at least in part on the image representation, and performing one or more prediction-based actions based at least in part on the image-based prediction.