Interactive Biomarker Network Visualization for Complex Disease Analysis

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Solution Overview

Problem

Current methods fail to effectively process and visualize the large number of significant associations across multi-modal biomarkers, such as genes and SNPs, to understand their functional significance in complex diseases like cardiovascular diseases, neurological diseases, and cancer, which require associating specific genes with disease phenotypes.

Innovation Solution

An interactive dashboard and cumulant-based network analysis tool that ingests a network of multi-modal biomarkers, producing a graphical representation and allowing users to query phenotypes, highlighting associated biomarkers and interactions, facilitating the identification of key biomarkers through community detection and centrality measures.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Loss of information

If traditional methods are used to process multi-modal biomarker data, then data processing can be performed, but the ability to effectively visualize and understand functional significance of large numbers of associations is insufficient

Engineering Contradiction:
Improvefunctional significance interpretationVSAvoiddata processing system
Core Design Contradiction:
Loss of informationVSDevice complexity

Solution Approach 1:

The system segments the complex multi-modal biomarker network into modular functional components organized by biological pathways and disease phenotypes. Each module represents a coherent functional unit that can be independently analyzed and visualized, making the overall complex system more interpretable while preserving functional significance information.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent introduces an interactive visualization system as an intermediary layer between the raw multi-modal biomarker data and the user. This intermediary transforms complex association data into intuitive graphical representations with filtering and exploration capabilities, enabling effective interpretation without oversimplifying the underlying complexity.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Quantity of substance

If comprehensive multi-modal biomarker networks are constructed to capture all associations, then complete data coverage is achieved, but the difficulty of interpreting functional significance increases

Engineering Contradiction:
Improvenumber of biomarker associationsVSAvoidfunctional significance interpretation
Core Design Contradiction:
Quantity of substanceVSDifficulty of detecting and measuring

Solution Approach 1:

The system applies local quality by providing different levels of detail and visualization strategies for different regions of the biomarker network. Highly connected hubs are displayed with summary statistics, while peripheral nodes show detailed associations. The visualization adapts its granularity based on the local density and importance of biomarker associations, making interpretation easier without losing comprehensive data coverage.

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The interactive visualization system allows dynamic exploration of the biomarker network through filtering, zooming, and drilling down capabilities. Users can dynamically adjust the level of detail displayed based on their specific interests, transitioning from overview perspectives to detailed functional analyses as needed, thereby managing interpretation difficulty while maintaining complete data availability.

Inventive Principle:
Principle #15Dynamics

3Loss of information

If detailed graphical representations of all biomarker interactions are displayed, then complete network information is visualized, but the ease of identifying specific phenotype-associated biomarkers decreases

Engineering Contradiction:
Improvenetwork interaction informationVSAvoidphenotype query and identification
Core Design Contradiction:
Loss of informationVSEase of operation

Solution Approach 1:

The system performs preliminary organization of the biomarker network data by disease phenotype and functional pathway before presentation to the user. Pre-computed association metrics and pre-structured visual hierarchies enable users to directly query specific phenotypes without navigating through the entire complex network, significantly improving ease of identification while preserving complete interaction information in the underlying data structure.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The interactive visualization provides immediate feedback when users query specific phenotypes, highlighting relevant biomarkers and their associations within the broader network context. The system dynamically updates the visualization to show both the specific phenotype-associated elements and their connections to the overall network, enabling easy identification of target biomarkers while maintaining awareness of complete network interactions.

Inventive Principle:
Principle #23Feedback

Data Source

PatentUS20240289342A1Interactive network for multi-modal biomarker discovery for complex diseases
Publication Date: 2024.08.29 INTERNATIONAL BUSINESS MACHINE CORPORATION
  • US20240289342A1 patent drawing
  • US20240289342A1 patent drawing
  • US20240289342A1 patent drawing

AI summary

A cumulant-based network analysis visualizer (CuNAviz) includes an interactive dashboard with a user interface and a display that allows a user to query a network of multi-modal biomarkers for phenotypes associated with a complex disease and to visualize answers to the queries as subgraphs. The subgraphs include highlighted nodes and edges where the highlighted nodes represent the multi-modal biomarkers from the network that are associated with the queried phenotypes for the complex disease and the highlighted edges represent the interactions between the multi-modal biomarkers that are associated with the queried phenotypes for the complex disease. The CuNAviz allows a user to identify important multi-modal biomarkers and neighborhoods of multi-modal biomarkers specific to a complex disease.