Non-invasive Genetic Variation Assessment via Genomic Section Mapping
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Current methods for non-invasive assessment of genetic variations, particularly in prenatal diagnostics, face challenges in accurately determining the presence or absence of genetic variations in cell-free DNA from pregnant females.
Innovation Solution
The method involves mapping nucleotide sequence reads to specific genomic sections of a reference genome, determining the amount of sequence reads mapped, and using this information to assess the presence or absence of genetic variations. This approach focuses on genomic sections with significant reads from nucleic acid fragments shorter than a selected fragment length.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Ease of operation
If cell-free DNA from maternal bloodstream is analyzed for fetal genetic variations, then non-invasive prenatal diagnosis is enabled, but accuracy in determining genetic variations is reduced leading to false positives or negatives
Solution Approach 1:
The method segments the analysis by focusing on specific genomic sections (chromosomal regions) rather than attempting to analyze all DNA fragments. It divides the problem into counting reads mapped to specific genomic sections, which enables accurate detection of copy number variations while maintaining non-invasive benefits.
Solution Approach 2:
The patent uses sequence reads from cell-free DNA as an intermediary to detect fetal genetic variations. Instead of directly analyzing fetal DNA, it counts and compares the abundance of reads mapping to specific genomic sections, using this intermediate measurement to infer copy number variations accurately.
2Reliability
If all genomic sections are analyzed for sequence reads, then comprehensive genetic assessment is achieved, but complexity and computational burden increase
Solution Approach 1:
The method extracts and focuses analysis on specific genomic sections that are relevant to the diagnostic question, rather than analyzing all genomic sections. This extraction of relevant information maintains comprehensive assessment of target regions while reducing overall computational complexity.
Solution Approach 2:
The patent applies partial action by analyzing only the necessary genomic sections required for detecting copy number variations, rather than performing exhaustive analysis of the entire genome. This provides sufficient diagnostic information with reduced computational burden.
Data Source
AI summary
Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.