Delta-Cq Confidence Estimation Using Noise Models

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Solution Overview

Problem

Quantitative PCR measurements require normalization to compare gene expression across samples, but existing methods lack precision in determining confidence intervals for delta-Cq values, especially with low material yields, leading to unreliable test results and potential need for repeated measurements.

Innovation Solution

A method that calculates confidence intervals for delta-Cq values by constructing a noise model from training PCR data, incorporating a lower bound to ensure finite variance, allowing for reliable estimation even with low material yields, and using this information to improve decision-making in patient treatment.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Adaptability or versatility

If the delta-Cq method is used for normalization, then gene expression can be compared across samples, but the precision and reliability of test results deteriorate when material yield is low

Engineering Contradiction:
Improveability to compare gene expression across samplesVSAvoidprecision of delta-Cq value estimation
Core Design Contradiction:
Adaptability or versatilityVSMeasurement precision

Solution Approach 1:

The patent introduces a lower bound parameter (LB) that changes the mathematical treatment of delta-Cq calculations. When material yield is low and replicates are undetected, the lower bound parameter transforms the infinite variance problem into a finite variance solution by constraining the delta-Cq value to be at least LB, thereby maintaining measurement precision across all material yields

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent performs preliminary calculation of confidence intervals and lower bounds before final test result determination. By pre-calculating the distribution of true delta-Cq values and determining confidence intervals in advance, the system can assess reliability before reporting results, allowing for proactive decision-making about repeated measurements

Inventive Principle:
Principle #10Preliminary action

2Reliability

If repeated measurements are performed to improve confidence, then test result reliability improves, but time consumption and productivity deteriorate

Engineering Contradiction:
Improvereliability of test resultVSAvoidtime for repeated measurements
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent implements a feedback mechanism that calculates confidence intervals and lower bounds for each measurement and uses this information to determine whether repeated measurements are necessary. The system feeds back the reliability assessment to the decision-making process, allowing clinicians to understand the precision of individual measurements before determining if repetition is needed, thereby avoiding unnecessary repeated measurements

Inventive Principle:
Principle #23Feedback

Solution Approach 2:

The system performs preliminary reliability assessment by calculating confidence intervals and lower bounds before final test result reporting. This preliminary action allows the system to predict whether a single measurement suffices or if repetition is needed, eliminating the need for blind repeated measurements and reducing time consumption

Inventive Principle:
Principle #10Preliminary action

3Measurement precision

If a lower bound is introduced to ensure finite variance, then measurement precision improves for low material yield samples, but the complexity of calculations increases

Engineering Contradiction:
Improveprecision of delta-Cq estimation for low material yieldVSAvoidcomplexity of confidence interval calculation
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent introduces a lower bound parameter (LB) that simplifies the mathematical treatment of low material yield samples. By changing the parameter space to constrain delta-Cq values to be at least LB, the system transforms complex infinite variance calculations into manageable finite variance calculations, improving precision without excessive complexity

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent applies the lower bound constraint partially - only when material yield is low and replicates are undetected. For normal samples with sufficient material yield, the standard delta-Cq calculation is used without the lower bound constraint. This partial application avoids unnecessary complexity in most cases while providing enhanced precision when needed

Inventive Principle:
Principle #16Partial or excessive action

Data Source

PatentEP2583209B1Estimation of delta-cq values with confidence from QPCR data
Publication Date: 2020.03.18 SIEMENS HEALTHCARE DIAGNOSTICS INC
  • EP2583209B1 patent drawingFigure 1~2
  • EP2583209B1 patent drawingFigure 3~4
  • EP2583209B1 patent drawingFigure 5

AI summary

The invention describes how to estimate delta-Cq values from measured (raw-) Cq values gained from PCR measurements and how to calculate confidence intervals for them. This is realized by the following processing steps: A noise model, which might be constructed on some training PCR data, calculates the distribution of the true target material concentration of a single well for an observed measurement results. Said distribution is calculated for all types of measurement results including "Numeric" raw-Cq values as well as Cq being "Undetected", which denotes that no fluorescence signal was detected during all cycles and thus corresponds to no or very few target molecules. Based on this distribution information from several replicate wells of a gene of interest and several replicate wells of one or more reference genes the distribution of the true delta-Cq value is calculated. In order to come out with a finite variance of the delta-Cq value (which so far would not be the case if all replicates are "Undetected") a lower bound is defined on the delta-Cq value. This lower bound is chosen so small that no useful information about the clinical implications is lost but so large that even for samples with low total material yield a reliable estimation of the delta-Cq value is possible.