Single-Molecule Real-Time Sequencing via Optical Confinement

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Solution Overview

Problem

Current methods for analyzing biological processes, such as monitoring therapeutically relevant biological pathways, often lose information due to averaging bulk reactions, making it difficult to tease out individual molecular complex activities and effects.

Innovation Solution

A method involving single-molecule real-time analysis using optical confinement techniques, like zero mode waveguides, to sequence mRNA transcripts by immobilizing them with sequencing engines and detecting the incorporation of labeled nucleotides, allowing for detailed sequence determination and base modification analysis.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If bulk reactions are used to monitor biological pathways, then general trends and bulk system responses can be ascertained, but substantial information is lost in the averaging process and individual molecular complex activities cannot be resolved

Engineering Contradiction:
Improveresolution of individual molecular complex activitiesVSAvoidinformation loss in bulk data averaging
Core Design Contradiction:
Measurement precisionVSLoss of information

Solution Approach 1:

The patent applies segmentation by transitioning from bulk reaction analysis to single-molecule analysis. Each optical confinement site isolates and analyzes individual molecular complexes, dividing the bulk population into discrete, individually monitorable units. This enables resolution of heterogeneous behaviors among individual complexes that are masked in bulk measurements.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent uses optical confinement sites to create multiple isolated copies of the same reaction system, allowing parallel single-molecule analysis. Each confinement site contains a copy of the biological pathway components, enabling simultaneous monitoring of many individual complexes without requiring separate physical samples.

Inventive Principle:
Principle #26Copying

2Measurement precision

If single-molecule real-time analysis is performed using optical confinement, then individual molecular complex activities can be resolved with high precision, but the device complexity and manufacturing difficulty increase

Engineering Contradiction:
Improvesingle-molecule detection accuracyVSAvoidcomplexity of optical confinement system
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent replaces complex mechanical confinement structures with optical confinement using evanescent waveguides and total internal reflection. This substitution simplifies the physical implementation while maintaining single-molecule isolation capability, as optical fields can be confined without requiring complex mechanical barriers or chambers.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The optical confinement system serves multiple functions simultaneously: it provides single-molecule isolation, enables real-time monitoring, allows parallel analysis of many complexes, and maintains biological activity. This multi-functionality reduces the need for separate specialized components, thereby managing overall system complexity.

Inventive Principle:
Principle #6Universality (Multi-functionality)

3Ease of operation

If bulk reaction monitoring is used, then the analysis system remains simple and easy to operate, but the ability to identify specific base modifications and secondary structures is lost

Engineering Contradiction:
Improvesimplicity of analysis systemVSAvoidloss of base modification and structure information
Core Design Contradiction:
Ease of operationVSLoss of information

Solution Approach 1:

The patent employs fluorescent labeling and detection of optical signals to identify base modifications and secondary structures. Different fluorescent labels or signal characteristics indicate specific modifications (e.g., methylation, pseudouridine) or structural features, enabling detection without complicating the overall operational protocol.

Inventive Principle:
Principle #32Color changes

Solution Approach 2:

The system incorporates real-time optical feedback to detect incorporation events, pauses, and structural changes during nucleic acid synthesis. This feedback mechanism provides immediate information about base modifications and secondary structures as they affect polymerase activity, maintaining operational simplicity while enabling detailed molecular characterization.

Inventive Principle:
Principle #23Feedback

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 precise determination of mRNA transcript sequences and base modifications, providing insights into biological reactions and potential therapeutic interventions with high resolution and accuracy.

Implementation Method 1

The complex is immobilized in an optical confinement

Methodology Applied
Scientific EffectOptical confinement:

Implementation Method 2

a sequencing-by-synthesis reaction is performed and a sequence of incorporation of the labeled nucleotides into a nascent polynucleotide complementary to the mRNA transcript is detected

Methodology Applied
Scientific EffectNucleic acid synthesis:

Data Source

PatentEP2425023B1Real-time sequencing methods and systems
Publication Date: 2015.12.23 PACIFIC BIOSCIENCES OF CALIFORNIA INC
  • EP2425023B1 patent drawingFigure 1
  • EP2425023B1 patent drawingFigure 2A
  • EP2425023B1 patent drawingFigure 2B

AI summary

The present invention is generally directed to compositions, methods, and systems for performing single-molecule, real-time analysis of a variety of different biological reactions. The ability to analyze such reactions provides an opportunity to study those reactions as well as to potentially identify factors and/or approaches for impacting such reactions, e.g., to either enhance or inhibit such reactions. In certain preferred embodiments, RNA templates are used in single-molecule real-time sequencing reactions.