Context-Aware Base Calling Using Error Classification Mapping

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Solution Overview

Problem

Existing DNA sequencing technologies suffer from base calling errors that affect downstream bioinformatics analysis and research accuracy, necessitating a method to reduce the error rate and improve sequencing quality.

Innovation Solution

A method and apparatus for base calling that involves acquiring a first mapping relationship between correct/incorrect classification information of an initial base calling result and first sequencing information, using a first mapping relationship acquisition module, and determining correct/incorrect classification information based on this relationship to calibrate base calling, thereby leveraging contextual sequences to mitigate high-frequency errors.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If conventional base calling methods are used, then the sequencing process is simple and fast, but the base calling error rate is high

Engineering Contradiction:
Improvebase calling accuracyVSAvoidbase calling process complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent applies preliminary action by pre-training a neural network model on large amounts of sequencing data before actual base calling. The model learns error patterns and contextual relationships in advance, enabling it to correct errors during the actual sequencing process without adding significant complexity to the real-time operation.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent introduces a neural network model as an intermediary between the raw sequencing signals and the final base calling results. This intermediary layer processes the signals, identifies error patterns, and produces corrected base calls, effectively mediating between the simple conventional method and the need for high accuracy.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Reliability

If base calling is performed without contextual analysis, then the processing speed is fast, but high-frequency errors cannot be mitigated

Engineering Contradiction:
Improveerror mitigation capabilityVSAvoidprocessing time
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The neural network model performs preliminary learning of contextual relationships and error patterns during the training phase. This pre-computation of contextual dependencies allows the model to quickly process sequences during actual base calling without performing exhaustive contextual analysis in real-time.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent replaces manual or rule-based contextual analysis with a neural network-based automated system. The neural network automatically learns and applies contextual relationships without requiring explicit programming of contextual rules, significantly reducing processing time while improving error mitigation.

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

3Measurement precision

If conventional base calling is used, then the computational resources required are low, but the sequencing error rate remains high

Engineering Contradiction:
Improvebase calling precisionVSAvoidcomputational resource consumption
Core Design Contradiction:
Measurement precisionVSUse of energy by moving object

Solution Approach 1:

The computationally intensive work of learning error patterns and contextual relationships is performed in advance during model training. Once trained, the model can be deployed with relatively lower computational requirements for actual base calling, as the heavy lifting has already been done during the preliminary training phase.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent creates a trained neural network model that copies the learned knowledge and error correction capabilities. This model can then be deployed across multiple sequencing operations without requiring retraining, efficiently replicating the high-precision base calling capability across many different sequencing tasks.

Inventive Principle:
Principle #26Copying

Data Source

PatentUS20250336478A1Base calling method and apparatus, device and storage medium
Publication Date: 2025.10.30 GENEMIND BIOSCIENCES CO LTD
  • US20250336478A1 patent drawing
  • US20250336478A1 patent drawing

AI summary

Disclosed are a method and an apparatus for base calling, a device, and a storage medium. The method includes: acquiring a first mapping relationship between correct/incorrect classification information of an initial base calling result of a sequencing cycle and first sequencing information of the initial base calling result of a sequencing cycle, where the first sequencing information includes first initial base calling information based on a designated sequencing cycle; and determining the correct/incorrect classification information of the initial base calling result of a sequencing cycle to be processed based on the first mapping relationship and the first sequencing information of the sequencing cycle to be processed. The method for base calling according to the method reduces the impact of a contextual sequence on the base calling and improves the accuracy of the base calling.