Target Capture Reagents for Cost-Efficient Cancer Genomic Profiling
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Whole exome sequencing for genomic profiling in cancer is not widely available and is expensive and time-intensive, posing challenges for translating genomic studies into routine clinical practice.
Innovation Solution
The use of target capture reagents with specific ratios and binding pairs to selectively capture and sequence genomic intervals, allowing for efficient analysis of genomic alterations.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If whole exome sequencing is used for genomic profiling, then comprehensive genomic coverage is achieved, but cost and time requirements increase significantly
Solution Approach 1:
The patent segments the genome into specific regions of interest (ROIs) that are enriched for cancer-relevant mutations. Instead of sequencing the entire exome, the method divides and conquers by focusing on curated genomic intervals, thereby reducing sequencing time and cost while maintaining clinical utility for cancer genomic profiling.
Solution Approach 2:
The patent extracts and sequences only the most clinically relevant genomic regions rather than the entire exome. By taking out and prioritizing specific cancer-associated genes and intervals, the method achieves efficient genomic profiling with reduced sequencing burden while capturing the essential information needed for clinical decision-making.
2Measurement precision
If whole exome sequencing is used for genomic profiling, then comprehensive genomic coverage is achieved, but implementation complexity increases
Solution Approach 1:
The patent segments the complex exome sequencing task into manageable regional units with specific capture probes designed for each interval. This segmentation simplifies the overall process by breaking down the technical challenges into smaller, more controllable components that can be optimized independently.
Solution Approach 2:
The patent changes key parameters by optimizing capture probe design, bait-to-library ratio, and sequencing depth for specific genomic regions. These parameter optimizations simplify the sequencing process by tailoring the methodology to the specific characteristics of cancer-relevant genomic intervals, reducing technical complexity compared to uniform whole exome sequencing.
3Measurement precision
If whole exome sequencing is used for genomic profiling, then complete genomic data is obtained, but cost increases
Solution Approach 1:
The patent extracts and sequences only the most clinically relevant genomic regions rather than the entire exome. By taking out and prioritizing specific cancer-associated genes and intervals, the method achieves efficient genomic profiling with reduced sequencing burden while capturing the essential information needed for clinical decision-making.
Solution Approach 2:
The patent applies partial action by sequencing only the necessary portion of the genome required for clinical cancer profiling. Rather than performing excessive whole exome sequencing, the method captures the optimal subset of genomic information needed for diagnostic and therapeutic decision-making, thereby reducing cost while maintaining clinical efficacy.
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 cost-effective and efficient genomic profiling, facilitating the determination of genomic signatures such as tumor mutational burden and microsatellite instability, thereby guiding patient treatment decisions.
Implementation Method 1
R1s comprise R1s that comprise a functional first member of a binding pair... the first member of the binding pair is capable of binding to a second member of the binding pair disposed on substrate
Data Source
AI summary
Compositions and methods of evaluating genomic alterations in a sample are disclosed.