Integrated Genetic Analysis Panel for Parentage, Phenotype, and Aneuploidy
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Existing genetic analysis methods fail to simultaneously perform parentage testing, phenotype analysis, and diagnosing chromosomal aneuploidy, lacking a unified approach to integrate these tests in a single analysis.
Innovation Solution
A genetic analysis method that includes a set of targets of analysis satisfying specific conditions, allowing for simultaneous performance of parentage testing, phenotype analysis, and chromosomal aneuploidy evaluation by analyzing single nucleotide polymorphism loci, using genotyping steps and calculating indices like Paternity Index (PI) and Maternity Index (MI) to determine parent-child relationships and chromosomal abnormalities.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If separate testing methods are used for parentage testing, phenotype analysis, and chromosomal aneuploidy diagnosis, then each test can be performed with dedicated protocols, but multiple separate tests increase analysis time and require multiple separate analyses
Solution Approach 1:
The patent combines three separate genetic tests (parentage testing, phenotype analysis, and chromosomal aneuploidy diagnosis) into a single unified testing method. All three analyses are performed simultaneously on the same nucleic acid sample using a single panel of genetic markers, eliminating the need for multiple separate tests and reducing overall analysis time while maintaining the precision of each individual test type
Solution Approach 2:
The patent creates a universal testing panel that serves multiple functions: it can perform parentage testing by analyzing specific genetic markers, phenotype analysis by detecting disease-associated variants, and chromosomal aneuploidy diagnosis by counting chromosome-specific markers. This multi-functional panel allows a single test to provide comprehensive genetic information across all three test types
2Productivity
If a unified testing method is developed to perform multiple tests simultaneously, then analysis time is reduced, but the complexity of designing a panel that satisfies multiple test requirements increases
Solution Approach 1:
The unified testing panel is segmented into three functional subsets of genetic markers: (1) markers for parentage testing with known inheritance patterns, (2) markers for phenotype analysis associated with specific diseases or traits, and (3) markers for chromosomal aneuploidy detection on specific chromosomes. This segmentation allows each subset to be optimized for its specific function while being integrated into a single comprehensive panel
Solution Approach 2:
Different regions of the genetic panel are assigned different qualities or characteristics based on their intended use. For example, certain marker locations are selected for their suitability in parentage determination, while other locations are chosen for their association with disease phenotypes or their chromosomal distribution for aneuploidy detection. This local optimization ensures each part of the panel performs its specific function effectively
Data Source
Figure 1~2
AI summary
The present invention addresses the problem of providing novel technology whereby it is possible to perform two or more tests selected from among parentage testing, phenotype analysis, and diagnosis of chromosomal numerical abnormalities. The present invention is a genetic analysis method for analyzing a group , which is satisfying two or more conditions selected from (i) to (iii) and includes two or more steps selected from a phenotype analysis step, a Parentage Testing step, and an Calculation Step for Evaluating Chromosomal Numerical Abnormalities.(i) The proportion of the number of single nucleotide polymorphism loci, which is already known to have a phenotype among the total number of single nucleotide polymorphism loci included in the group to be analyzed is 10% or more. (ii) The proportion of the number of single nucleotide polymorphism loci that have a minor allele frequency of 1%-50% and are separated from each other by a distance of 20 kb or more on the chromosome among the total number of single nucleotide polymorphism loci included in the group to be analyzed is 10% or more. (iii) The proportion of the number of single nucleotide polymorphism loci present on chromosome 13, chromosome 18, chromosome 21, the X chromosome, and the Y chromosome among the total number of single nucleotide polymorphism loci included in the group to be analyzed is 10% or more.