Sequence Data Analyzer Using Concatenation Strings to Eliminate Identifiers

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Solution Overview

Problem

The existing methods for handling paired-end read sequence data require large identifiers to link paired sequences, leading to increased data sizes and decreased computing efficiency, particularly with vast amounts of short reads where 4 billion patterns of identifiers result in significant data size and processing inefficiencies.

Innovation Solution

A sequence data analyzer is developed with a read dictionary preparation unit that creates concatenation strings from paired sequences, a query retrieval unit that searches for hit positions, and a sample reconstruction unit that extracts mate sequences from these dictionaries, eliminating the need for identifiers by using terminal characters and BW transformation to enhance data retrieval efficiency.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If identifiers are used to link paired read sequences, then pairing information can be handled, but data size increases and computing efficiency decreases

Engineering Contradiction:
Improvepairing information accuracyVSAvoidcomputing efficiency
Core Design Contradiction:
ReliabilityVSProductivity

Solution Approach 1:

The invention extracts and eliminates the identifier component from the data structure, retaining only the essential pairing information through concatenation of read sequences. This removes the harmful element (identifiers consuming 4 bytes each) while preserving the useful function (linking paired reads).

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The invention merges the left and right read sequences directly by concatenation, combining what was previously separate entities (identifier + sequence) into a single integrated structure. This eliminates the need for separate identifier storage and reduces overall data size.

Inventive Principle:
Principle #5Merging (Combining)

2Reliability

If identifiers are used to link paired read sequences, then pairing information can be handled, but data size increases significantly

Engineering Contradiction:
Improvepairing information accuracyVSAvoiddata size
Core Design Contradiction:
ReliabilityVSQuantity of substance

Solution Approach 1:

The invention extracts and removes the identifier portion from the data structure, keeping only the essential sequence data. This eliminates the harmful element (identifiers consuming 4 bytes each) while preserving the useful function (linking paired reads).

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The invention merges the left and right read sequences directly by concatenation, combining what was previously separate entities (identifier + sequence) into a single integrated structure. This eliminates the need for separate identifier storage and reduces overall data size.

Inventive Principle:
Principle #5Merging (Combining)

3Measurement precision

If conventional mapping methods are used, then genome mapping can be performed, but processing time increases

Engineering Contradiction:
Improvemapping accuracyVSAvoidprocessing time
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The invention performs preliminary concatenation of read sequences with terminal characters during data preparation, creating a pre-processed structure that enables faster querying. This preliminary organization of data allows subsequent mapping operations to execute more efficiently without sacrificing accuracy.

Inventive Principle:
Principle #10Preliminary action

Data Source

PatentUS10810239B2Sequence data analyzer, DNA analysis system and sequence data analysis method
Publication Date: 2020.10.20 HITACHI HIGH TECH CORP
  • US10810239B2 patent drawing
  • US10810239B2 patent drawing
  • US10810239B2 patent drawing

AI summary

A sequence data analyzer comprising: a read dictionary preparation unit creating a read sequence dictionary based on a concatenation string, the concatenation string constituted of a pair of a left sequence and a right sequence, which are obtained by sequencing a sample DNA fragment respectively from the left and right ends, and connecting characters connecting these sequences together; and a sample reconstruction unit extracting, as a sample sequence, a string up to a terminal character positioned in the string of a hit position of a query sequence in the read sequence dictionary, and extracting, as a mate sequence, the left sequence or right sequence until the appearance of a terminal character on the side where the hit position doesn't exist in the sample sequence.