Genome Explorer System for Nucleotide Variation Visualization
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Solution Overview
Problem
Current methods for whole genome sequencing lack an efficient and intuitive way to visualize and analyze variations in genetic sequences between individuals, making it difficult to interpret and share genomic data effectively.
Innovation Solution
A computer system and method that aligns sequence data from a test sample with a reference sample, identifies variations, and displays them on a comparative gene sequence map, allowing users to select regions for magnification and filter data for specific variations.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Loss of information
If whole genome sequencing is performed to identify genetic variations between individuals, then comprehensive genetic data is obtained, but the ability to efficiently visualize and analyze variations is insufficient
Solution Approach 1:
The patent segments the genome sequence into manageable chromosomal regions and displays them as discrete graphical elements. Each chromosome or chromosomal region is represented as a separate visual unit with markers indicating specific variation locations, allowing users to analyze genetic variations in segmented portions rather than overwhelming entire genomes at once.
Solution Approach 2:
The patent creates graphical copy representations of the actual genome sequence data. Instead of displaying raw sequence data directly, the system generates visual copies including chromosomal maps, variation markers, and graphical interfaces that replicate the essential information in an easily interpretable format, enabling efficient visualization without losing critical genetic variation information.
2Measurement precision
If detailed nucleotide-level analysis is provided for entire genomes, then comprehensive variation detection is achieved, but data complexity and difficulty of interpretation increase
Solution Approach 1:
The patent applies local quality by providing detailed nucleotide-level information only at specific locations where variations occur, rather than displaying exhaustive detail across the entire genome. The graphical interface shows high-resolution variation data localized to chromosomal regions containing markers, while other regions are displayed at lower resolution or aggregated levels, reducing overall complexity while maintaining precision where needed.
Solution Approach 2:
The patent transforms one-dimensional genome sequence data into multi-dimensional graphical representations. Chromosomes are displayed as visual structures with spatial positioning, variation markers are layered on top at specific coordinates, and additional dimensions include color coding, marker sizes, and interactive elements that encode multiple data attributes simultaneously, making complex nucleotide-level information more interpretable.
3Loss of information
If complete genome sequence data is displayed, then all genetic variations are visible, but the interface becomes difficult to navigate and interpret
Solution Approach 1:
The patent divides the complete genome sequence into segmented chromosomal regions that can be independently displayed and navigated. The graphical interface presents chromosomes or chromosomal segments as separate visual units, allowing users to focus on specific regions of interest without being overwhelmed by the entire genome, while ensuring no variation data is lost through systematic regional breakdown.
Solution Approach 2:
The patent implements dynamic display capabilities where the graphical interface can be interactively adjusted, zoomed, and navigated. Users can dynamically explore different chromosomal regions, expand or collapse specific segments, and adjust the level of detail displayed, making the interface adaptable to user needs and improving navigability while preserving access to complete genome variation data.
Data Source
AI summary
This disclosure provides a technology for users to gain first-hand knowledge and experience with interpreting whole genomes. The technology graphically depicts variations in genome sequences in an expandable display, and provides a platform whereby the user may find and research the biological significance of such variants. The technology also provides a unique collaborative environment designed to capture and improve the collective knowledge of the participating community.