Bioassay System Parallel Optical Detection for High-Throughput Sequencing

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Solution Overview

Problem

Conventional high-throughput nucleic acid sequencing technologies are costly, error-prone, and inefficient due to complex and expensive scanning and image analysis processes, and are limited by the number of detecting units and the distance between molecules and detectors, which hinders the goal of achieving the '$1000 genome' paradigm.

Innovation Solution

A bioassay system comprising a plurality of optical detection apparatuses that allow for parallel sequencing of multiple nucleic acid templates with a simplified design, where linker sites are proximate to light detectors, enabling direct detection of fluorophore molecules and reducing the need for complex scanning and image analysis, and allowing for single molecule sequencing.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Productivity

If conventional high-throughput capillary electrophoresis and automated genome sequencing technology are used, then sequencing throughput is increased, but device complexity and cost increase significantly

Engineering Contradiction:
Improvesequencing throughputVSAvoiddevice complexity
Core Design Contradiction:
ProductivityVSDevice complexity

Solution Approach 1:

The system divides the detection task into many independent parallel channels, with each optical detection apparatus independently detecting a single nucleic acid molecule. This segmentation enables high throughput through parallel processing while keeping each individual detection unit simple in structure

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The invention uses multiple copies of simple optical detection apparatuses arranged in parallel arrays. Each apparatus is an identical, simple unit that detects one molecule, and many such copies work simultaneously to achieve high throughput sequencing without requiring complex individual components

Inventive Principle:
Principle #26Copying

2Quantity of substance

If arrays or detection systems move to capture multiple images, then more molecules can be detected, but image acquisition and analysis time increase and errors increase

Engineering Contradiction:
Improvenumber of molecules detectedVSAvoidimage acquisition and analysis time
Core Design Contradiction:
Quantity of substanceVSLoss of time

Solution Approach 1:

Instead of moving the detection system to capture multiple images sequentially, the invention inverts the approach by having multiple stationary detection apparatuses simultaneously detect multiple molecules. This eliminates the need for scanning and image tiling operations

Inventive Principle:
Principle #13The other way round (Inversion)

Solution Approach 2:

The invention extracts and eliminates the complex image acquisition and analysis steps from the sequencing process. By using direct optical detection at the molecule level with stationary detectors, the system removes the need for image capturing, tiling, and alignment operations that consume time and introduce errors

Inventive Principle:
Principle #2Taking out (Extraction)

3Device complexity

If existing systems that do not involve moving optics are used, then image acquisition is simplified, but the number of detecting units is limited to a modest number

Engineering Contradiction:
Improvedetection system complexityVSAvoidnumber of detecting units
Core Design Contradiction:
Device complexityVSProductivity

Solution Approach 1:

The invention transitions from a single detection plane to a three-dimensional arrangement where multiple optical detection apparatuses are distributed in space. Each apparatus detects molecules at different positions, effectively adding spatial dimensions to the detection capacity without increasing the complexity of individual detection units

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

4Quantity of substance

If the distance between molecules and detecting units is increased, then more molecules can be monitored, but the strength of the detected signal decreases

Engineering Contradiction:
Improvenumber of molecules monitoredVSAvoidsignal strength
Core Design Contradiction:
Quantity of substanceVSMeasurement precision

Solution Approach 1:

The invention replaces mechanical scanning systems with direct optical coupling between fluorophores and photodetectors. The optical detection apparatuses are positioned in close proximity to the molecules, enabling strong signal detection through direct optical interaction without mechanical movement, while parallel arrays of such apparatuses enable monitoring of many molecules simultaneously

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

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

The system enables high-throughput, cost-effective, and error-reduced nucleic acid sequencing by simultaneously detecting millions of nucleic acid segments with improved signal strength, facilitating whole genome sequencing and resequencing.

Implementation Method 1

detecting a single fluorophore molecule

Methodology Applied
Scientific EffectFluorescence: Fluorescence

Implementation Method 2

light detector collects light emitted from the biomolecule

Methodology Applied
Scientific EffectPhotoelectric Effect: Photoelectric Effect

Data Source

PatentEP3037553B1Bioassay system including optical detection apparatuses, and method for detecting biomolecules
Publication Date: 2019.04.17 IND TECH RES INST
  • EP3037553B1 patent drawingFigure 1~2
  • EP3037553B1 patent drawingFigure 3~4
  • EP3037553B1 patent drawingFigure 5

AI summary

A bioassay system is disclosed. The bioassay system may include a plurality of optical detection apparatuses, each of which includes a substrate having a light detector, and a linker site formed over the light detector, the linker site being treated to affix the biomolecule to the linker site. The linker site is proximate to the light detector and is spaced apart from the light detector by a distance of less than or equal to 100 micrometers. The light detector collects light emitted from the biomolecule within a solid angle of greater than or equal to 0.8 Sl steridian. The optical detection apparatus may further include an excitation light source formed over the substrate so as to provide a light source for exciting a fluorophore attached to the biomolecule.