Gene Sequencing Signal Analysis for Accurate Base Calling

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Solution Overview

Problem

Existing gene sequencing methods suffer from low base identification accuracy and high computational resource demands due to signal intensity variations and the need for sequential processing of sequencing cycles.

Innovation Solution

A method and system that acquires and analyzes signal intensity values of nucleotide sequence clusters independently in each sequencing cycle, using multi-core parallel processing and statistical analysis to identify base sequences without considering signal intensity variations or read number, and filters out abnormal signals.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If sequential processing of sequencing cycles is performed with pre-classification, normalization, and clustering, then complete base sequence identification is achieved, but base identification accuracy decreases and computational resource demand increases

Engineering Contradiction:
Improvebase identification accuracyVSAvoidcomputational resource demand
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the sequencing data processing by treating each nucleotide sequence cluster independently. Instead of processing all sequences through a unified sequential pipeline, each cluster is processed separately with its own signal intensity analysis, eliminating the need for global pre-classification and clustering steps while maintaining complete base sequence identification.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent extracts and removes the complex sequential processing steps (pre-classification, normalization, clustering) from the workflow. By directly analyzing signal intensity values of each cluster independently and comparing them against reference values, the method eliminates unnecessary computational intermediate steps that consumed resources without improving accuracy.

Inventive Principle:
Principle #2Taking out (Extraction)

2Measurement precision

If signal intensity variations are considered in sequencing analysis, then processing completeness is maintained, but base identification accuracy decreases

Engineering Contradiction:
Improvebase identification accuracyVSAvoidsignal intensity variation handling
Core Design Contradiction:
Measurement precisionVSAdaptability or versatility

Solution Approach 1:

The patent applies local quality by analyzing signal intensity within each individual nucleotide sequence cluster context rather than applying uniform processing across all sequences. Each cluster's signals are compared against its own reference values, allowing accurate base identification that is adapted to local signal characteristics without being degraded by global signal intensity variations.

Inventive Principle:
Principle #3Local quality

3Productivity

If multiple processing steps (pre-classification, normalization, clustering) are performed sequentially, then comprehensive analysis is achieved, but processing time increases

Engineering Contradiction:
Improvesequencing processing efficiencyVSAvoidprocessing time
Core Design Contradiction:
ProductivityVSLoss of time

Solution Approach 1:

The patent performs preliminary action by directly obtaining signal intensity values for each nucleotide sequence cluster and immediately comparing them against reference values. This eliminates the need for intermediate processing steps, allowing the system to jump directly from raw signal acquisition to base sequence identification, thereby dramatically reducing processing time while maintaining comprehensive analysis.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent skips through the traditional multi-step processing pipeline by rushing directly from signal acquisition to final identification. By eliminating pre-classification, normalization, and clustering steps, the method rushes through the processing workflow in a single direct comparison operation, achieving both time efficiency and processing completeness.

Inventive Principle:
Principle #21Skipping (Rushing through)

Data Source

PatentEP4644562A1Gene sequencing method and system, electronic device, and storage medium
Publication Date: 2025.11.05 QINGDAO MGI TECH CO LTD
  • EP4644562A1 patent drawingFigure 1
  • EP4644562A1 patent drawingFigure 2
  • EP4644562A1 patent drawingFigure 3

AI summary

The present disclosure provides a gene sequencing method and system, an electronic device, and a storage medium. The gene sequencing method comprises: acquiring a plurality of groups of signals to be sequenced of a plurality of nucleotide sequence clusters, wherein said plurality of groups of signals have one-to-one correspondence to said plurality of nucleotide sequence clusters, each group of signals to be sequenced comprises a plurality of signals to be sequenced, and each signal to be sequenced corresponds to one sequencing cycle; in each sequencing cycle, obtaining a signal strength value of a corresponding signal to be sequenced; and according to the signal intensity value of each signal to be sequenced, performing identification to obtain a gene sequencing result of the nucleotide sequence cluster corresponding to the corresponding group of signals to be sequenced. According to the present disclosure, independent analysis is performed only on signals to be sequenced to identify a corresponding base sequence, the sequencing operation process is simple and efficient, the requirements for computing resources are greatly reduced, the efficiency and precision in obtaining a gene sequencing result are effectively improved, the error rate is greatly reduced, and the yield and the mapping rate are improved.