Combined NGS Library Preparation for Simultaneous Targeted and Genome Analysis
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Solution Overview
Problem
Current next-generation sequencing (NGS) technologies often require separate analyses for targeted gene panels and whole genome sequencing, lacking a method to combine libraries for simultaneous genetic analysis, which hinders data quality, cost-effectiveness, and turnaround time.
Innovation Solution
A method involving the generation of two distinct modified libraries from a single adaptor-tagged parent library, using capture probes and primer pairs to create a combined library, with quality control processes for adaptors and capture probes to ensure high-quality sequencing results.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If separate analyses are performed for targeted gene panels and whole genome sequencing, then each analysis can be optimized independently, but the overall process requires more time, higher costs, and lower productivity
Solution Approach 1:
The patent combines targeted gene panel libraries and whole genome sequencing libraries into a single pooled library for simultaneous sequencing. This merging approach maintains the analytical quality of both methods while improving productivity by eliminating the need for separate sequencing runs, thereby reducing turnaround time and costs.
Solution Approach 2:
The patent develops universal adaptors and indexing strategies that work for both targeted gene panels and whole genome sequencing. This multi-functionality allows a single sequencing run to handle multiple library types, optimizing resource utilization and improving throughput without compromising the specific requirements of each analysis type.
2Reliability
If separate analyses are performed for targeted gene panels and whole genome sequencing, then each analysis can be optimized independently, but the overall process requires more resources and higher costs
Solution Approach 1:
The patent combines targeted gene panel libraries and whole genome sequencing libraries into a single pooled library for simultaneous sequencing. This merging approach maintains the analytical quality of both methods while improving productivity by eliminating the need for separate sequencing runs, thereby reducing turnaround time and costs.
Solution Approach 2:
The patent employs unique indexing strategies that allow for the identification and separation of different library types after pooling. This enables the recovery and independent analysis of targeted gene panel data and whole genome sequencing data from a single sequencing run, maintaining data quality while reducing overall costs through resource sharing.
3Reliability
If separate analyses are performed for targeted gene panels and whole genome sequencing, then each analysis can be optimized independently, but the overall process becomes more complex
Solution Approach 1:
The patent uses unique indexing strategies to segment and identify different library types within a pooled library. This segmentation approach allows for the independent analysis of targeted gene panel and whole genome sequencing data while simplifying the overall workflow by eliminating the need for separate library preparation and sequencing processes.
Solution Approach 2:
The patent develops universal adaptors and indexing strategies that work for both targeted gene panels and whole genome sequencing. This multi-functionality allows a single sequencing run to handle multiple library types, optimizing resource utilization and improving throughput without compromising the specific requirements of each analysis type.
4Productivity
If multiple libraries are combined in a single sequencing analysis, then productivity and cost-effectiveness improve, but the risk of cross-contamination and loss of library identity increases
Solution Approach 1:
The patent introduces unique indexing sequences as intermediaries between different library types in the pooled library. These indexes act as identifiers that allow the sequencing system to distinguish and correctly assign reads to their respective libraries, preventing cross-contamination and preserving library identity while enabling simultaneous analysis.
Solution Approach 2:
The patent applies library-specific indexing strategies to different regions or types of libraries within the pooled library. This local quality approach ensures that each library maintains its unique characteristics and identity through targeted indexing, while the overall pooled library benefits from improved productivity and cost-effectiveness.
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
Enables simultaneous genetic analysis of multiple libraries, improving data quality, reducing costs, and enhancing turnaround time by consolidating the benefits of both targeted gene panels and whole genome sequencing.
Implementation Method 1
the first process comprises contacting the first adaptor-tagged library with a capture probe
Implementation Method 2
the second process comprises amplifying or extending a DNA fragment of the second adaptor-tagged library
Data Source
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AI summary
The disclosure provides compositions and methods that combine the benefits of different genetic analysis methods by performing simultaneous genetic analysis on a single pool of different libraries that were generated for different approaches, such as a combined library comprising a LPWG library and a target-enriched library.