Mutation Analysis Filter Reclassifies Driver Candidates
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Solution Overview
Problem
Conventional databases only record somatic mutations but do not provide a definitive judgment on whether these mutations directly influence the development or progression of diseases like cancer, making it challenging to interpret mutation analysis results effectively.
Innovation Solution
An information processing device that selects target sequence variations by using a first filterer to classify sequence variations based on a classification criterion, a classification criterion setter to set a criterion for registration in a database, and a second filterer to reclassify sequence variations that satisfy the database registration criterion into a higher category.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Ease of manufacture
If conventional databases only record somatic mutations without providing definitive judgment on disease influence, then the database can be simple and easy to maintain, but the ability to interpret mutation analysis results effectively deteriorates
Solution Approach 1:
The patent segments the mutation analysis process into multiple filtering stages (first filterer, second filterer) with different classification criteria. The database stores raw mutation data separately from the interpretation results, allowing independent maintenance of data storage and analysis functionality while improving interpretation capability through structured multi-criteria evaluation.
2Measurement precision
If manual interpretation of each mutation is performed, then definitive judgment on disease influence can be achieved, but the analysis efficiency deteriorates due to the enormous number of mutations detected
Solution Approach 1:
The patent introduces automated filterers as intermediary components between the raw mutation data and final interpretation. These filterers apply classification criteria (such as driver mutation characteristics, gene functional categories, mutation impact predictions) to automatically pre-screen and prioritize mutations, reducing the burden on manual interpretation while maintaining accuracy for critical cases.
3Productivity
If a single classification criterion is used to filter sequence variations, then the analysis process is simple and fast, but the accuracy of identifying driver mutations deteriorates due to numerous factors to consider
Solution Approach 1:
The patent implements a dynamic multi-stage filtering system where the classification criteria can be adjusted and combined based on different analysis needs. The first filterer applies initial criteria to reduce candidate numbers, then the second filterer applies additional criteria to further refine results. This dynamic approach allows the system to maintain high speed through automated processing while achieving high accuracy through cumulative application of multiple classification dimensions.
Data Source
AI summary
The purpose of the present invention is to improve the efficiency and convenience of analyzing the degree of likelihood that a mutation is one that affects the development or progression of a disease. A common filter unit of an analysis device for selecting a cancer driver mutation in a subject classifies, on the basis of a first classification criteria, each of a plurality of sequence mutations identified by sequencing nucleic acids included in the subject into a rank from among rank MYC1 for which the likelihood of being selected as a target sequence mutation is the highest and ranks MYC2 to MYC4 for which the above likelihood is lower than that for MYC1. A parameter-setting reception unit sets, as a second classification criteria, a classification criteria of having been registered in a database or a list, the second classification criteria being different from the first classification criteria for carrying out classification into rank MYC1. A seed gene filter reclassifies, into rank MYC1, a sequence mutation that satisfies the second classification criteria from among the sequence mutations classified into ranks MYC2 to MYC4. The problem is thereby solved.