SNP Panel Selection for Genetic Sample Identification

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Solution Overview

Problem

Current genetic analysis methods for identifying and distinguishing biological samples, such as cell lines and tumor samples, are time-consuming and complex due to the need to analyze hundreds or thousands of single nucleotide polymorphisms (SNPs), making them costly and inefficient.

Innovation Solution

The methods involve selecting a manageable set of SNPs through statistical analysis to create a genetic barcode for each sample, allowing for accurate identification and discrimination using a smaller, more cost-effective panel of SNPs tailored to the specific samples being analyzed, rather than relying on larger, randomly selected sets.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If hundreds or thousands of SNPs are analyzed in parallel using high-throughput genotyping methods, then accurate identification and discrimination of biological samples is achieved, but the analysis becomes time-consuming and complex

Engineering Contradiction:
Improvesample identification accuracyVSAvoidgenotyping analysis complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent extracts and identifies a specific subset of informative SNPs from the complete set of potential SNPs. By selecting only those SNPs that provide meaningful discrimination power for the particular biological samples being analyzed, the method reduces the analysis from hundreds or thousands of SNPs to a manageable panel while maintaining identification accuracy

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent applies local quality by tailoring the SNP panel to the specific characteristics of the biological samples being analyzed. Different sample types (e.g., cell lines, tumor samples, blood samples) receive customized SNP panels selected based on their genetic variability and discriminatory power for that particular sample set, rather than using a uniform approach for all samples

Inventive Principle:
Principle #3Local quality

2Measurement precision

If hundreds or thousands of SNPs are analyzed in parallel, then comprehensive genetic characterization is achieved, but the analysis becomes costly and inefficient

Engineering Contradiction:
Improvegenetic sample discrimination accuracyVSAvoidanalysis efficiency
Core Design Contradiction:
Measurement precisionVSProductivity

Solution Approach 1:

The method extracts only the essential SNPs needed for accurate sample identification from the complete SNP set. By removing redundant SNPs that do not contribute meaningfully to discrimination, the analysis becomes more efficient and cost-effective while preserving the ability to accurately distinguish between biological samples

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent applies partial action by analyzing only the necessary subset of SNPs rather than the complete set. This selective approach performs sufficient genetic analysis to achieve accurate identification without the excessive cost and time associated with comprehensive genotyping of all available SNPs

Inventive Principle:
Principle #16Partial or excessive action

3Measurement precision

If a large number of SNPs are used for genetic analysis, then thorough discrimination among samples is achieved, but the cost-effectiveness decreases

Engineering Contradiction:
Improvesample discrimination powerVSAvoidnumber of SNPs analyzed
Core Design Contradiction:
Measurement precisionVSQuantity of substance

Solution Approach 1:

The patent extracts a minimal sufficient set of SNPs that provides adequate discrimination power for the specific sample set. By identifying and removing unnecessary SNPs from the analysis panel, the method reduces the quantity of genetic markers needed while maintaining the ability to thoroughly discriminate among biological samples

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent changes the parameter of SNP panel size from a fixed large number to a variable optimized size based on the specific samples being analyzed. Through statistical analysis, the method determines the optimal number of SNPs needed for each sample set, reducing the quantity analyzed while preserving discrimination power

Inventive Principle:
Principle #35Parameter changes

Data Source

PatentUS7981609B2Methods for identifying and using SNP panels
Publication Date: 2011.07.19 DANA FARBER CANCER INSTITUTE INC
  • US7981609B2 patent drawing
  • US7981609B2 patent drawing
  • US7981609B2 patent drawing

AI summary

Described are methods for identifying single nucleotide polymorphism (SNPs) that are useful for analyzing genetic samples, and for using said SNPs to determine genetic identity of samples.