Nucleotide Sequence Matching via Mer Sorting

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Solution Overview

Problem

Conventional gene assembly systems face challenges in efficiently processing large nucleotide sequence datasets due to high computational overhead and long processing times, especially when dealing with enormous data sets that exceed the capacity of volatile memory.

Innovation Solution

A layout assembly system that divides nucleotide sequences into mers, assigns indices, and uses a mer generating and sorting system, hit determination system, hit table sorting system, and post processing system to efficiently compare and align sequences, reducing the need for loading entire datasets into volatile memory and minimizing processing time.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Productivity

If conventional gene assembly systems process entire datasets in a single operation, then complete genome assembly is achieved, but processing time becomes excessively long and memory requirements exceed volatile memory capacity

Engineering Contradiction:
Improveprocessing speedVSAvoidassembly time
Core Design Contradiction:
ProductivityVSLoss of time

Solution Approach 1:

The patent divides the genome assembly process into distinct phases: read processing phase where reads are converted to layout information and stored in nonvolatile memory, and assembly phase where the layout is used to guide efficient assembly. This segmentation allows the system to handle large datasets without loading everything into volatile memory simultaneously, thereby reducing processing time while maintaining completeness.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The system performs preliminary processing of reads to generate layout information (contig-scaffold- chromosome mappings) before the actual assembly operation. This pre-computed layout is stored in nonvolatile memory and serves as a guide during assembly, eliminating the need for time-consuming real-time comparisons and significantly reducing overall assembly time.

Inventive Principle:
Principle #10Preliminary action

2Speed

If entire nucleotide sequence datasets are loaded into volatile memory for processing, then random access and processing speed improve, but memory requirements become unmanageable for large datasets

Engineering Contradiction:
Improvedata access speedVSAvoidmemory capacity
Core Design Contradiction:
SpeedVSQuantity of substance

Solution Approach 1:

The patent segments the dataset handling into two parts: layout information (compact metadata about genome structure) is stored in nonvolatile memory, while only the actual assembly operations load necessary portions into volatile memory. This segmentation enables efficient processing of large datasets without requiring excessive memory capacity.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The layout information acts as an intermediary between the stored read data and the assembly process. Instead of directly comparing all reads during assembly, the system uses the pre-computed layout as a mediator to guide the assembly, reducing both memory requirements and access time by avoiding redundant data transfers.

Inventive Principle:
Principle #24Intermediary (Mediator)

3Reliability

If raster-type scan is used for pairwise comparison of sequences, then systematic comparison is achieved, but computational overhead increases significantly for large datasets

Engineering Contradiction:
Improvecomparison completenessVSAvoidcomputational overhead
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The system performs preliminary organization of reads into layouts (grouping by contig, scaffold, and chromosome) before the pairwise comparison phase. This pre-organization eliminates the need for exhaustive raster-type scanning by providing a structured framework that guides comparisons, thereby maintaining completeness while reducing computational overhead.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

Instead of applying uniform raster-type scanning across the entire dataset, the patent applies localized comparisons within the context of the layout structure. Comparisons are performed within specific genomic regions and contexts defined by the layout, rather than globally across all sequences, reducing overall computational complexity while maintaining reliability.

Inventive Principle:
Principle #3Local quality

Data Source

PatentUS10930369B1Systems and methods for identifying nucleotide sequence matches
Publication Date: 2021.02.23 DNASTAR INC
  • US10930369B1 patent drawing
  • US10930369B1 patent drawing
  • US10930369B1 patent drawing

AI summary

Systems and methods automatically identify a set of read sequences in one or more larger nucleotide sequences within a set of comparing sequences as a template. The sequences of each set are divided into smaller mer sequences and sorted to arrange the mer sequences in order, and the sets of mers originating from the read sequence set and the comparing sequence set are compared pairwise to determine matching regions between the sequences of the read sequence set and the sequences of the comparing set. The sorting of the sequence sets prior to the pairwise comparison reduces the amount of volatile memory required to assemble the read sequence set and also reduces the overall time to identify matches of the read sequence set in one or more larger nucleotide sequence databases.