Forensic DNA Mixture Analysis via STR Allele Residual Minimization

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Solution Overview

Problem

Current forensic DNA analysis methods face challenges in accurately interpreting complex DNA mixtures, particularly those with multiple contributors, often relying on assumptions and requiring expert interpretation, which can lead to biased results and difficulties in identifying the number and sequences of contributors without prior knowledge.

Innovation Solution

A method that analyzes short tandem repeat markers to identify the most probable proportion and allele sequences of nucleic acids in a sample by amplifying markers, evaluating allele combinations, and using statistical analysis to minimize residuals, allowing for unbiased identification of contributors without prior knowledge of genotypes or contributor numbers.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If maximum allele count method is used to identify multiple contributors, then the number of contributors can be estimated, but the method relies on dangerous assumptions that may lead to incorrect identification

Engineering Contradiction:
Improveidentification accuracyVSAvoidmethod reliability
Core Design Contradiction:
Measurement precisionVSReliability

Solution Approach 1:

The method allows the DNA mixture data itself to determine the number of contributors through statistical analysis of allele frequencies, rather than requiring external assumptions or expert interpretation. The algorithm objectively evaluates all possible contributor scenarios and selects the most probable one based on the data

Inventive Principle:
Principle #25Self-service

Solution Approach 2:

The patent replaces the manual expert interpretation process with an objective computational algorithm that uses statistical models to automatically determine the number of contributors and their genotypes, eliminating human bias and subjective judgment

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

2Adaptability or versatility

If expert interpretation is used to analyze DNA mixtures, then complex cases can be evaluated, but the analysis becomes subjective and biased

Engineering Contradiction:
Improveanalysis capabilityVSAvoidanalysis objectivity
Core Design Contradiction:
Adaptability or versatilityVSMeasurement precision

Solution Approach 1:

The patent replaces expert human interpretation with an automated computational algorithm that objectively analyzes DNA mixture data through statistical models, eliminating subjectivity and bias while maintaining the capability to handle complex cases

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The method uses iterative statistical evaluation where the algorithm tests multiple possible contributor scenarios, compares predicted allele frequencies with observed data, and refines its determination through least squares analysis to achieve the most probable solution

Inventive Principle:
Principle #23Feedback

3Ease of operation

If prior knowledge of contributors is required for analysis, then the interpretation process is simplified, but the method becomes biased and less useful for unknown samples

Engineering Contradiction:
Improveinterpretation simplicityVSAvoidmethod applicability
Core Design Contradiction:
Ease of operationVSAdaptability or versatility

Solution Approach 1:

The patent creates a universal method that can analyze DNA mixtures regardless of whether contributor information is known or unknown. The algorithm is designed to handle both scenarios by objectively evaluating all possible contributor scenarios based solely on the observed allele data

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

Instead of starting with known contributor information and working forward, the method inverts the approach by starting with the observed allele data and working backward to determine the most probable number of contributors and their genotypes without any prior assumptions

Inventive Principle:
Principle #13The other way round (Inversion)

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

This method provides an unbiased analysis of nucleic acid mixtures, enabling the identification of the most likely number of contributors and their allele sequences, even in complex samples, without relying on assumptions or prior knowledge, and can handle mixtures from multiple contributors, improving the accuracy and objectivity of forensic DNA analysis.

Implementation Method 1

amplifying multiple short tandem repeat markers from nucleic acids in the sample

Methodology Applied
Scientific EffectPCR amplification:

Data Source

PatentEP3317794B1Method for interrogating mixtures of nucleic acids
Publication Date: 2019.08.07 THE SEC OF STATE FOR DEFENCE IN HER BRITANNIC MAJESTYS GOVERNMENT OF THE UK OF GREAT BRITAIN & NORTHERN IRELAND
  • EP3317794B1 patent drawingFigure 1a
  • EP3317794B1 patent drawingFigure 1b
  • EP3317794B1 patent drawingFigure 2

AI summary

The invention provides methods for interrogating mixtures of nucleic acids through amplification of short tandem repeat markers (loci) within each nucleic acid, and thereby analysis of the amounts of each allele amplified from each marker, and in particular interrogating mixtures of DNA, such as forensic (trace) samples, to identify the most probable number of contributors of nucleic acid in the mixture, the most probable ratio/proportion of the nucleic acids in the mixture, and thereby the most probable nucleic acid sequence for each marker within a nucleic acid.