Chromosomal Aneuploidy Detection with Non-Parametric Testing
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Solution Overview
Problem
Existing methods for detecting chromosomal aneuploidy are prone to false positives and negatives due to environmental parameter inconsistencies, leading to high detection and maintenance costs.
Innovation Solution
A method using chromosome bin sequences and sequencing depth sequences, determined from reference genome data and whole genome sequencing data, with a non-parametric test to identify aneuploidy, independent of environmental parameters.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If traditional detection methods (z-score, NCVs, GWNS) are used to determine chromosomal aneuploidy by comparing sample indicators to normal sample distributions, then detection accuracy can be maintained under consistent environmental conditions, but detection costs and maintenance costs increase due to the requirement for environmental parameter consistency
Solution Approach 1:
The patent extracts and removes the dependency on environmental parameters (sample collection conditions, sequencing environment, computing environment) from the detection process. By using a non-parametric test that compares only the indicator values between test and reference samples without requiring environmental consistency, the method eliminates the complex environmental control requirements while maintaining detection accuracy
Solution Approach 2:
The patent changes the detection approach from parametric methods (z-score, NCVs, GWNS) that require environmental parameter consistency to a non-parametric test that does not. This parameter change in the statistical methodology fundamentally removes the constraint of environmental consistency requirements, reducing operational complexity while preserving detection precision
2Reliability
If environmental parameters (sample collection, sequencing environment, computing environment) are standardized to ensure indicator consistency, then false positive and false negative results are reduced, but detection time and resource consumption increase
Solution Approach 1:
The patent removes the time-consuming environmental parameter standardization process entirely. By adopting a non-parametric test that does not require environmental consistency, the method eliminates the need for extensive environmental control and matching procedures, thereby reducing detection time and resource consumption while maintaining result reliability through direct indicator comparison
Solution Approach 2:
The non-parametric test methodology is self-sufficient and does not require external environmental parameter standardization. The method independently compares indicator values between test and reference samples without needing environmental matching, making the detection process more autonomous and efficient while preserving reliability
3Reliability
If large amounts of time and resources are invested to improve matching between sample indicators and normal sample set indicators, then false positive and false negative results are reduced, but detection and maintenance costs increase
Solution Approach 1:
The patent extracts and eliminates the need for extensive resource investment in environmental parameter matching. By using a non-parametric test that compares indicators directly without requiring environmental consistency, the method removes the costly matching process while maintaining indicator comparison accuracy and detection reliability
Solution Approach 2:
The patent adopts a simpler, more economical detection approach that does not require expensive environmental standardization infrastructure. The non-parametric test method uses basic indicator comparisons that are resource-efficient and cost-effective, achieving reliable results without substantial time and resource investment in environmental matching
Data Source
AI summary
Provided are a method and apparatus for detecting chromosomal aneuploidy, a device and a storage medium. The method includes: determining a chromosome bin sequence of a chromosome under test according to reference genome nucleic acid data of a human reference genome, where the chromosome bin sequence includes at least one bin number ratio; determining a sequencing depth sequence of the chromosome under test according to whole genome sequencing data of a nucleic acid sample under test, where the sequencing depth sequence includes at least one sequencing depth parameter; and according to the chromosome bin sequence and the sequencing depth sequence, performing a non-parametric test to determine an aneuploidy detection result of the chromosome under test in the nucleic acid sample under test. Relatively high detection accuracy is achieved, the problem is solved of dependence of a method for detecting chromosomal aneuploidy on indicator distribution in a normal sample, and detection and maintenance costs of chromosomal aneuploidy are reduced.