Targeted Nucleic Acid Sequencing via Probe Enrichment
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Solution Overview
Problem
Current genome sequencing methods are costly and time-consuming, especially when analyzing separate DNA samples, and there is a need for more efficient and accurate methods to sequence targeted regions of the genome for understanding diseases and therapeutic development.
Innovation Solution
The method involves fragmenting nucleic acid molecules, tagging them with barcodes, and using probes to enrich specific genomic regions, allowing for high-throughput sequencing of targeted portions while retaining molecular context, using techniques like hybridization and capture on solid supports.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If whole genome sequencing is performed, then comprehensive genetic information is obtained, but the cost and time required increase significantly
Solution Approach 1:
The patent extracts and sequences only the specific genomic regions of interest rather than the entire genome. This is achieved through targeted enrichment methods that isolate particular genes or genomic intervals, thereby reducing sequencing time and cost while maintaining the ability to obtain comprehensive genetic information for the regions under study.
Solution Approach 2:
The patent divides the genome into discrete target regions that can be independently enriched and sequenced. By segmenting the genomic analysis into specific regions of interest, the method enables focused sequencing that reduces overall sequencing time while preserving the comprehensive genetic information needed for accurate analysis.
2Measurement precision
If separate individual DNA samples are analyzed, then detailed genetic information is obtained, but the cost increases significantly
Solution Approach 1:
The patent combines multiple individual DNA samples into a pooled library that is then enriched for target regions. This merging approach allows simultaneous analysis of multiple samples through a single enrichment and sequencing process, significantly reducing per-sample costs while maintaining the ability to retrieve detailed genetic information for each individual through barcode identification.
Solution Approach 2:
The patent introduces barcodes as intermediary molecules that link individual DNA samples to their enriched target regions. These barcodes enable the tracking and identification of sequences back to their original samples after pooling and enrichment, allowing cost-effective multiplexing while preserving the ability to obtain detailed genetic information for each individual.
3Productivity
If targeted region sequencing is performed, then cost and time are reduced, but comprehensive genomic coverage is lost
Solution Approach 1:
The patent applies targeted enrichment to specific genomic regions that are locally optimized for the research or clinical question at hand. Rather than uniformly sequencing the entire genome, the method focuses sequencing depth and resources on particular genes or intervals of interest, achieving high productivity while capturing all necessary genomic information for those specific locations.
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 reduces sequencing costs and time by focusing on specific genomic regions, providing high accuracy and retaining the original molecular context of the sequences, enabling better understanding of diseases and drug response variability.
Implementation Method 1
hybridizing probes complementary to regions in or near the one or more selected portions of the genome to the fragments to form probe-fragment complexes
Implementation Method 2
the capture moieties include streptavidin and the binding moieties include biotin
Data Source
AI summary
The present invention is directed to methods, compositions and systems for capturing and analyzing sequence information contained in targeted regions of a genome. Such targeted regions may include exomes, partial exomes, introns, combinations of exonic and intronic regions, genes, panels of genes, and any other subsets of a whole genome that may be of interest.