Mutation Mapping of Distal Nucleic Acids for Source Localization
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Solution Overview
Problem
Existing diagnostic methods struggle to accurately determine the source of nucleic acids detected distal from their origin in the body, leading to limited sensitivity and difficulty in detecting and monitoring diseases, particularly when nucleic acids from multiple sources combine, complicating the identification of disease location.
Innovation Solution
A method involving the separation of blood samples into cell-free and surface-bound nucleic acid components, independent sequencing, and comparison with a mutation map to identify differential mutations, allowing for the discrimination and localization of nucleic acid signals using developmental or spatial mutation maps.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Ease of operation
If nucleic acids are sampled distal from their source in the body, then easier access for diagnosis is achieved, but the ability to determine the source tissue is lost
Solution Approach 1:
The patent applies preliminary action by creating a mutation map before analyzing distal nucleic acid samples. The mutation map is generated by sequencing nucleic acids from multiple tissue types and storing their characteristic mutations in a database. When distal samples are later analyzed, the pre-existing mutation map enables source identification without requiring direct access to the source tissue, thus resolving the contradiction between easy sampling and source determination.
Solution Approach 2:
The patent uses copying by creating a digital representation (mutation map) of the source tissue's genetic characteristics. Instead of requiring physical access to the source tissue, the system copies the essential identifying information (mutations) into a database that can be referenced when analyzing distal samples. This allows source identification through information copying rather than physical sampling.
2Quantity of substance
If nucleic acids from multiple sources are combined in bodily fluids, then comprehensive health information is obtained, but sensitivity to detect signals from any single source is reduced
Solution Approach 1:
The patent applies segmentation by dividing the mixed nucleic acid signal into distinct source-specific components through mutation analysis. By identifying mutations that are unique to each tissue type in the mutation map, the system can segment the combined signal from multiple sources and analyze each source independently. This segmentation restores detection sensitivity for individual sources while maintaining the ability to analyze comprehensive health information from all sources.
Solution Approach 2:
The patent uses local quality by focusing analysis on specific mutation markers that are characteristic of particular tissue types. Rather than attempting to detect all nucleic acid signals uniformly, the system applies local quality enhancement by targeting analysis at tissue-specific mutations, thereby improving detection sensitivity for each source while maintaining comprehensive coverage of multiple sources through the diverse mutation map.
3Reliability
If traditional diagnostic methods are used to detect diseases in difficult-to-access locations, then disease detection is possible, but invasive procedures are required
Solution Approach 1:
The patent uses an intermediary approach by utilizing distal nucleic acid samples (such as blood or urine) as mediators to obtain information about difficult-to-access tissues. Instead of directly sampling the target tissue through invasive procedures, the system analyzes nucleic acids that have naturally shed into easily accessible bodily fluids and uses mutation mapping to infer the state of the source tissue, thereby eliminating the need for invasive procedures while maintaining reliable disease detection.
4Productivity
If distal nucleic acid samples are analyzed without source identification, then diagnostic speed is improved, but disease location monitoring becomes difficult
Solution Approach 1:
The patent applies preliminary action by pre-generating mutation maps that contain spatial information about different tissue types before diagnostic analysis. The mutation map stores the geographic or anatomical origin of each mutation profile, so when distal samples are rapidly analyzed, the pre-organized spatial information enables immediate source localization without adding time to the diagnostic process. This resolves the contradiction by preparing spatial reference information in advance.
Data Source
AI summary
Disclosed herein are methods for improving detection and monitoring of human diseases. The methods can be used to provide spatial and/or developmental localization of the source of each differential mutation within the body. The methods can also be used to generate a mutation map of a subject. And the mutation map can be used to monitoring state(s) of health of one or more tissues of a subject.