Genomic Data Analysis With High-Resolution Translocation Mapping
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Solution Overview
Problem
Current genomic analysis systems face challenges in identifying and classifying genetic variations, particularly translocations, and presenting this information in a high-resolution manner that maintains association with other genomic locations.
Innovation Solution
A computer-implemented method and system for analyzing genetic variation data, including creating an index of documents, applying filters, and displaying genetic variants on a browser page with linear representations of genomes, where translocations are highlighted and breakpoints are connected by lines or curves, allowing for high-resolution visualization and interactive features.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If traditional genomic analysis systems are used to identify and classify genetic variations, then basic variant detection is achieved, but the ability to present translocation data with high-resolution visualization while maintaining association with other genomic locations is insufficient
Solution Approach 1:
The patent applies dimensionality change by transitioning from one-dimensional linear genome representations to two-dimensional visualization space. Translocations are displayed by mapping breakpoints from the first linear genome representation to a second linear genome representation, creating a 2D coordinate system that preserves the 1D genomic context while enabling high-resolution translocation visualization. This resolves the contradiction by adding spatial dimensions rather than increasing complexity within the same dimension.
Solution Approach 2:
The patent segments the translocation visualization into distinct components: first breakpoint markers, second breakpoint markers, and connecting visual elements. Each component is independently positioned and rendered, allowing high-resolution display of translocation details while maintaining the overall genomic context. This segmentation enables complex data presentation without overwhelming the visualization system.
2Loss of information
If comprehensive genomic data is analyzed and presented, then complete genetic variation information is provided, but the ease of operation and rapid access to specific variants is reduced
Solution Approach 1:
The patent extracts specific translocation features from the comprehensive genomic data set and presents them in a dedicated visualization format. By separating translocation breakpoints and connections from the general variant list, the system maintains complete genetic variation information in the background while providing rapid, easy access to translocation-specific data through the visual map. This extraction resolves the contradiction by making specific information readily accessible without losing comprehensive data.
3Adaptability or versatility
If multiple types of genetic variants are displayed with different features, then comprehensive variant classification is achieved, but the difficulty of detecting and measuring translocation characteristics increases
Solution Approach 1:
The patent applies local quality by providing different visualization treatments for different variant types within the same genomic data set. Translocations receive special treatment with breakpoint markers and connecting visual elements, while other variants are displayed using appropriate symbols. This localized enhancement makes translocation characteristics easy to detect and measure without compromising the comprehensive display of all variant types.
Data Source
AI summary
Embodiments relate to methods and systems for analyzing genomic data, such as genetic variants. Some embodiments relate to the efficient analysis and presentation of certain genetic variants of an individual.