Genetic Characteristic Estimation via Mutation Segmentation
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Solution Overview
Problem
Existing techniques for estimating genetic characteristics of organisms are limited in accuracy as they do not distinguish between genetic mutations of interest and other mutations, leading to incomplete representation of genetic characteristics.
Innovation Solution
A genetic characteristic estimation device and method that acquires genetic mutation information and position information associating DNA sequence positions with cell or organ types, determining a mutation of interest and computing a genetic characteristic index value based on its characteristics, with the mutation of interest having a higher influence on the index value.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If all genetic mutations are treated equally in the estimation, then the estimation process is simple, but the accuracy of genetic characteristic representation is insufficient
Solution Approach 1:
The patent segments genetic mutations into two distinct categories: mutations of interest and other mutations. This segmentation allows the system to apply different weighting and processing rules to each category, thereby improving the accuracy of genetic characteristic representation while maintaining manageable system complexity through clear classification.
Solution Approach 2:
The patent applies local quality by assigning different levels of importance to different mutations. Mutations of interest are given higher weight and priority in the estimation calculation, while other mutations receive lower weight. This differential treatment optimizes the representation of genetic characteristics for specific regions or types of mutations without requiring complete reanalysis of all mutations.
2Adaptability or versatility
If genetic mutation information from multiple sources is integrated, then the comprehensiveness of genetic analysis is improved, but the complexity of data processing increases
Solution Approach 1:
The patent implements universality by designing a unified estimation device that can process multiple types of genetic mutation information from different sources (e.g., whole genome sequencing, exome sequencing, targeted sequencing) through a single consistent framework. The device maintains a standardized output format and processing logic regardless of the input source, thereby achieving comprehensive analysis capability without proportionally increasing processing complexity.
Data Source
AI summary
A genetic characteristic estimation device (2000) acquires genetic mutation information (30) and position information (40). The genetic mutation information (30) indicates information regarding a genetic mutation in a deoxyribonucleic acid (DNA) sequence of a target cell (20) obtained from a target organism (10). In the position information (40), a position on the DNA sequence is associated with the type of a cell or the type of an organ. The genetic characteristic estimation device (2000) determines a genetic mutation at the position associated with the type of the target cell (20) or the type of an organ including the target cell (20) in the position information (40) from among genetic mutations indicated by the genetic mutation information (30), and computes a genetic characteristic index value representing a genetic characteristic of the target organism (10) based on a characteristic of the determined genetic mutation.