Window-Based Genotype Comparison for Inherited Segment Mapping
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Solution Overview
Problem
Existing methods lack an efficient and user-friendly way to compare and display genotypic information between individuals, particularly for determining similarities and relationships based on DNA sequences, which is crucial for understanding genetic variations and traits.
Innovation Solution
A system and method for comparing genotypic information between at least two individuals, utilizing a comparison engine to analyze DNA sequences and display similarities graphically using colored symbols to represent identical, half-identical, and non-identical regions, with options for phased or unphased data and specific trait comparisons.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Ease of operation
If traditional methods are used to compare DNA sequences between individuals, then the comparison can be performed, but the process becomes complex and difficult to understand for users
Solution Approach 1:
The patent segments the DNA sequence comparison process into discrete analysis windows along the genome. Each window is independently analyzed for identity or half-identity status, and results are segmented into distinct graphical representations. This segmentation transforms the overwhelming task of comparing entire genomes into manageable, visual segments that users can easily interpret.
Solution Approach 2:
The patent employs color changes and graphical symbols to represent different comparison results. Identical regions are marked with one visual indicator, half-identical regions with another, creating an intuitive visual language. This transforms abstract genetic data into easily distinguishable visual patterns that improve ease of understanding without adding operational complexity.
2Measurement precision
If detailed DNA sequence comparisons are performed across the entire genome, then accurate genetic similarity information is obtained, but the amount of data to be processed and displayed increases significantly
Solution Approach 1:
The patent extracts only the essential comparison information from the entire genome by analyzing specific analysis windows at predetermined intervals. Rather than processing and displaying every single nucleotide position, the method extracts representative data points that capture the essential genetic similarity patterns. This extraction maintains measurement precision while dramatically reducing the quantity of data that must be processed and displayed.
Solution Approach 2:
The patent performs partial action by analyzing selected windows throughout the genome rather than every possible position. The analysis covers sufficient ground to provide accurate genetic similarity determination while avoiding excessive processing of redundant data. This partial analysis approach achieves the necessary precision without the burden of complete exhaustive comparison.
3Loss of information
If the entire genome is analyzed in detail to determine identical and half-identical regions, then comprehensive genetic information is obtained, but the time required for comparison increases
Solution Approach 1:
The patent performs preliminary action by establishing predetermined analysis windows and selection criteria before conducting the actual comparison. The positions, sizes, and spacing of analysis windows are predetermined based on genetic knowledge and computational efficiency considerations. This preliminary setup enables rapid processing during the actual comparison while ensuring comprehensive coverage of relevant genetic regions, thus reducing overall comparison time without sacrificing information completeness.
Data Source
AI summary
Displaying a comparison of genetic data is disclosed, including receiving an indication of a first individual, receiving an indication of a second individual, retrieving the genotypic information for the first individual and the second individual, comparing the genotypic information of the first individual and the second individual, displaying an indication of the comparison of the genotypic information of the first individual and the second individual graphically. A first graphical symbol is used to display an indication of the genome regions for which the first individual and the second individual are identical. A second graphical symbol is used to display an indication of the genome regions for which the first individual and the second individual are half identical.