Deterministic Lateral Displacement Arrays for Rapid Mutation Screening
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Solution Overview
Problem
Conventional methods for detecting disease-causing mutations such as SNPs, CNVs, and chromosomal aneuploidy are costly and time-consuming, leading to delayed patient treatment and unnecessary healthcare expenditures.
Innovation Solution
The use of deterministic lateral displacement arrays with site-specific cleaving techniques and molecular probes to screen for mutations, allowing for rapid and cost-effective detection of SNPs and CNVs by analyzing the flow paths of molecular probes through nanoscale arrays.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If conventional whole-gene or whole-genome sequencing methods are used to identify novel disease-causing SNPs, then comprehensive mutation detection is achieved, but processing time increases to months or weeks and costs increase significantly
Solution Approach 1:
The patent extracts and isolates specific genomic regions of interest (target sequences) from the entire genome using hybridization capture technology. By focusing only on relevant sequences rather than sequencing the whole genome, the method achieves comprehensive mutation detection in targeted areas while reducing processing time from months to days and lowering costs significantly.
Solution Approach 2:
The patent divides the genomic detection process into discrete segments or targets. Instead of analyzing the entire genome as one unit, the method segments the genome into specific regions of interest (such as disease-associated genes or pathways) and analyzes each segment independently through targeted hybridization and sequencing, thereby reducing overall processing time and resource requirements.
2Measurement precision
If conventional whole-gene or whole-genome sequencing methods are used to identify novel disease-causing SNPs, then comprehensive mutation detection is achieved, but healthcare costs increase significantly
Solution Approach 1:
The patent extracts and isolates specific genomic regions of interest from the entire genome using hybridization capture technology. By focusing only on relevant sequences rather than sequencing the whole genome, the method achieves comprehensive mutation detection in targeted areas while reducing processing time from months to days and lowering costs significantly.
Solution Approach 2:
The patent applies partial action by sequencing only the necessary portions of the genome that are relevant to disease detection, rather than performing exhaustive whole-genome sequencing. This targeted approach uses approximately 1-10% of the sequencing resources required for complete genome analysis, significantly reducing costs while maintaining diagnostic accuracy for specific clinical indications.
3Measurement precision
If conventional sequencing methods are used to detect exon copy number variants (CNVs), then detection is attempted, but the methods require understanding of exon copy number ratios and face similar challenges to SNP detection with high costs and long processing times
Solution Approach 1:
The patent uses hybridization capture probes as an intermediary mechanism to enrich and isolate specific genomic regions containing exons of interest. This intermediary step allows for focused analysis of copy number variants by concentrating the relevant DNA sequences before sequencing, enabling accurate CNV detection through read depth analysis while reducing processing time and costs compared to conventional methods.
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 approach enables rapid, cost-effective detection of mutations with lower sample volumes, reducing processing time and improving patient care by providing quicker diagnostic results.
Implementation Method 1
hybridizing a molecular probe to a deoxyribonucleic acid segment
Implementation Method 2
The cleaving can comprise a cleaving agent that targets base pair mismatches
Implementation Method 3
supplying the sample fluid to a nanoscale deterministic lateral displacement array to screen for a single nucleotide polymorphism
Data Source
AI summary
Techniques regarding screening for mutations using nanoscale deterministic arrays are provided. For example, one or more embodiments described herein can comprise a method, which can comprise cleaving a deoxyribonucleic acid segment hybridized with a molecular probe to form a sample fluid. The cleaving can occur at a first end and a second end of the molecular probe. Also, the cleaving can comprise a cleaving agent that targets base pair mismatches. The method can also comprise supplying the sample fluid to a nanoscale deterministic lateral displacement array to screen for a single nucleotide polymorphism.