Genotype Identification Using Fluorescent Probes and Generative Models
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Solution Overview
Problem
Conventional methods for verifying genome edits in organisms are time-consuming and resource-intensive, making it difficult to accurately identify specific target alleles in sample genomes.
Innovation Solution
A system and method that uses multiple probes to bind to target regions in sample genomes, detecting fluorescence intensities and employing a generative model to identify genotypes, thereby reducing verification time and improving accuracy.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Loss of time
If conventional breeding techniques are used to verify genome edits, then accuracy in identifying target alleles is maintained, but verification time and resource consumption increase substantially
Solution Approach 1:
The patent replaces conventional mechanical breeding and phenotypic verification methods with a molecular biology-based probe hybridization system. Probes bind to complementary DNA sequences through chemical hybridization, enabling direct detection of target alleles without requiring time-consuming breeding operations or phenotypic analysis, thus reducing verification time while maintaining accuracy.
Solution Approach 2:
The patent introduces fluorescent probes as intermediary molecules that mediate between the sample DNA and the detection system. These probes bind to target alleles and carry fluorescent signals that can be detected by a scanner, serving as an intermediary that enables rapid, accurate identification without requiring direct observation of the genome through conventional methods.
2Measurement precision
If multiple probes are used to detect different target regions, then accuracy in genotyping is improved, but device complexity increases
Solution Approach 1:
The patent designs a universal probe-based detection system where multiple probes with different fluorescent labels can be used to detect different target regions simultaneously. The same scanner and analysis pipeline can process all probe types, making the system multi-functional and reducing overall complexity despite using multiple probes for comprehensive genotyping.
Solution Approach 2:
The patent employs fluorescent probes that emit light at different wavelengths (colors) when bound to target alleles. This color-coding allows multiple target regions to be detected simultaneously in a single experiment using a single scanner, simplifying the detection process while maintaining high accuracy through multiplexed detection.
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
The system enables rapid and accurate identification of target alleles, reducing runtime and increasing accuracy compared to legacy techniques, with potential for substantial decreases in analytic turnaround time and enhanced precision in genotyping.
Implementation Method 1
exposing a sample of an organism to multiple probes, the multiple probes including a first type of probe configured to bind to a first target region containing a target marker with a first target allele and a second type of probe configured to bind to a second target region containing the target marker with a second target allele
Implementation Method 2
detecting, by a detector, intensities of fluorescence in the sample from the multiple probes
Data Source
AI summary
Example systems and methods for resolving indicators associated with specific genotypes of samples are disclosed. One example computer-implemented method includes exposing a sample of an organism to multiple probes, where the multiple probes include a first type of probe configured to bind to a first target region containing a target marker with a first target allele and a second type of probe configured to bind to a second target region containing the target marker with a second target allele, the first allele different than the second allele, and detecting, by a detector, intensities of fluorescence in the sample from the multiple probes. The method also includes identifying, by a computer device, based on the detected intensities of fluorescence in the sample and using a generative model, a genotype at the target marker of the organism and displaying, via the computer device, the identified genotype at the target marker of the organism.