DNA Sequencing Error Correction via Redundant Encoding

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Solution Overview

Problem

Current DNA sequencing systems face challenges in detecting and correcting errors and ambiguities without a reference sequence, often requiring repetitive measurements and lacking mechanisms for real-time error correction.

Innovation Solution

The implementation of redundant encoding schemes that introduce redundancy into DNA sequencing data, allowing for error detection and correction using ECC (Error Correction Code) encoders and decoders, which can identify and correct errors without repeating measurement steps.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If redundant encoding schemes are implemented in DNA sequencing, then error detection and correction capability is improved, but device complexity increases

Engineering Contradiction:
Improveerror correction capabilityVSAvoidsystem complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent applies preliminary action by pre-configuring probes with specific redundancy patterns and error correction codes before the sequencing process begins. The system pre-establishes the relationship between probes, templates, and expected signal patterns, allowing errors to be detected and corrected during data analysis without requiring additional physical measurement steps. This is evident in the method where probes are designed with known redundancy structures that enable real-time error correction during sequencing.

Inventive Principle:
Principle #10Preliminary action

2Measurement precision

If repetitive measurements are performed to verify sequence accuracy, then measurement precision is improved, but loss of time increases

Engineering Contradiction:
Improvesequence accuracyVSAvoidsequencing time
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent applies the copying principle by creating multiple redundant digital representations of the same physical measurement through the redundant probe configuration. Instead of physically repeating measurements, the system generates multiple correlated signal readings from different probes that interrogate the same template region. These redundant copies are then processed computationally to identify and correct errors, eliminating the need for time-consuming repetitive physical measurements while maintaining high accuracy.

Inventive Principle:
Principle #26Copying

3Loss of information

If redundant data collection is performed to enable error correction, then loss of information is reduced, but quantity of substance increases

Engineering Contradiction:
Improveerror detection accuracyVSAvoiddata volume
Core Design Contradiction:
Loss of informationVSQuantity of substance

Solution Approach 1:

The patent applies segmentation by dividing the sequencing data into discrete units that can be independently processed and corrected. The redundant probe signals are segmented into individual readings that are then analyzed separately but correlated together for error detection. This segmentation allows the system to process large volumes of redundant data in manageable chunks, applying error correction algorithms to each segment while maintaining overall sequence accuracy without being overwhelmed by the total data volume.

Inventive Principle:
Principle #1Segmentation

Data Source

PatentUS10418128B2Systems and methods for error correction in DNA sequencing
Publication Date: 2019.09.17 LIFE TECHNOLOGIES CORP
  • US10418128B2 patent drawing
  • US10418128B2 patent drawing
  • US10418128B2 patent drawing

AI summary

Disclosed are systems and methods for polynucleotide sequencing where detection and correction of base calling errors can be achieved without reliance on a reference sequence. In certain embodiments, redundant information can be introduced during measurement so as to allow such detection of errors. Such redundant information and measurements can be facilitated by encoding of nucleotide sequence being measured. Various examples of such encoding, redundancy introduction, and decoding are provided.