Meta-Analysis Infrastructure for Biomedical Data Integration

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Solution Overview

Problem

Researchers face challenges in efficiently integrating and analyzing vast amounts of diverse biomedical data from various sequencing technologies, assays, and organisms, necessitating fast and efficient tools to assimilate new information and connect it with existing data across different platforms.

Innovation Solution

A meta-analysis infrastructure is developed to combine orthogonal data types, including mutation, methylation, and gene expression profiling, to elucidate mechanisms of disease development and treatment responses, enabling the integration of sequence-centric data with gene-centric information and public knowledge.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Productivity

If researchers manually integrate and analyze diverse biomedical data from various sequencing technologies and assays, then comprehensive analysis coverage is achieved, but time consumption and analysis efficiency deteriorate

Engineering Contradiction:
Improvedata analysis efficiencyVSAvoidtime consumption for data integration
Core Design Contradiction:
ProductivityVSLoss of time

Solution Approach 1:

The system segments diverse biomedical data into standardized feature sets with defined schemas, organizing mutation, methylation, and expression data into separate manageable components that can be processed independently and then integrated efficiently

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent introduces an intermediary integration layer that standardizes and harmonizes data from different sequencing technologies and assays before analysis, acting as a mediator that translates diverse data formats into a unified structure for efficient processing

Inventive Principle:
Principle #24Intermediary (Mediator)

2Adaptability or versatility

If comprehensive data from multiple platforms and organisms is integrated, then analysis completeness is improved, but system complexity increases

Engineering Contradiction:
Improvedata integration coverageVSAvoidsystem integration complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The system implements universal feature set schemas that can accommodate multiple data types, platforms, and organisms through a single standardized framework, enabling the same integration mechanism to handle diverse biomedical data without requiring platform-specific processing logic

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

Solution Approach 2:

The patent utilizes parameter-based feature definitions where data characteristics are described through standardized parameters and attributes, allowing the system to adapt to different data sources by changing parameter values rather than restructuring the entire integration approach

Inventive Principle:
Principle #35Parameter changes

3Quantity of substance

If large volumes of biomedical data are stored and processed, then information completeness is improved, but computational resource requirements increase

Engineering Contradiction:
Improvedata volumeVSAvoidcomputational resource consumption
Core Design Contradiction:
Quantity of substanceVSUse of energy by moving object

Solution Approach 1:

The system performs preliminary data standardization, validation, and feature extraction during the data ingestion phase, preparing data in advance for analysis. This preliminary processing organizes data into optimized feature sets that reduce computational overhead during subsequent querying and analysis operations

Inventive Principle:
Principle #10Preliminary action

Data Source

PatentUS10127353B2Method and systems for querying sequence-centric scientific information
Publication Date: 2018.11.13 ILLUMINA INC
  • US10127353B2 patent drawing
  • US10127353B2 patent drawing
  • US10127353B2 patent drawing

AI summary

According to various embodiments, aspects of the invention provide a highly efficient meta-analysis infrastructure for performing research queries across a large number of studies and experiments from diverse sequencing technologies as well as different biological and chemical assays, data types and organisms, as well as systems to build and add to such an infrastructure. The methods, systems and apparatuses described enable combining orthogonal types of data and available public knowledge to elucidate mechanisms governing normal development, disease progression, as well as susceptibility of individuals to disease or response to drug treatments.