Bit Vector In-Memory Accelerator for Genome Alignment

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Solution Overview

Problem

Current genome sequencing technologies face inefficiencies in read mapping due to high error rates in long-read sequencing, leading to substantial time and resource consumption in identifying accurate alignments between DNA fragments and reference genomes.

Innovation Solution

The implementation of a bit vector-based in-memory accelerator (BitMAC) using a modified Bitap algorithm, which supports both short and long reads, reduces loop-carried data dependencies and enables parallel processing, combined with processing-in-memory (PIM) to enhance memory bandwidth and efficiency in genome sequence alignment.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If traditional software-based read mapping is used to align DNA fragments with reference genomes, then alignment accuracy can be maintained, but processing time and computational resource consumption increase substantially

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

Solution Approach 1:

The patent replaces traditional software-based read mapping algorithms with a hardware-accelerated system using FPGAs and ASICs. The bit vector-based in-memory accelerator (BitMAC) implements the Bitap algorithm in hardware, substituting mechanical/software processing with electronic/hardware processing to achieve faster alignment while maintaining accuracy

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

Solution Approach 2:

The patent introduces bit vector data structures as an intermediary representation between the raw DNA sequences and the alignment results. This bit vector intermediary enables efficient parallel processing in hardware by encoding sequence information in a format optimized for bitwise operations, thus speeding up the alignment process without sacrificing accuracy

Inventive Principle:
Principle #24Intermediary (Mediator)

2Length of moving object

If long-read sequencing technologies are used to generate longer DNA base pairs, then coverage of complex genomic regions improves, but error rates increase leading to more computational resources needed for accurate alignment

Engineering Contradiction:
Improveread lengthVSAvoiderror rate
Core Design Contradiction:
Length of moving objectVSReliability

Solution Approach 1:

The patent changes the parameter of error tolerance by implementing adjustable threshold mechanisms in the hardware accelerator. The system can dynamically adjust the number of allowed mismatches and gaps based on read length and quality metrics, enabling accurate alignment of long reads with higher error rates by adapting the alignment criteria to the specific characteristics of long-read data

Inventive Principle:
Principle #35Parameter changes

3Measurement precision

If software-based alignment algorithms are used to handle high error rates in long reads, then alignment accuracy can be improved, but computational complexity and resource consumption increase

Engineering Contradiction:
Improvealignment accuracyVSAvoidcomputational complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent replaces complex software-based alignment algorithms with simplified hardware implementations that use bit vector operations. The hardware accelerator performs parallel bitwise comparisons and error tolerance checks, reducing computational complexity by leveraging the parallel processing capabilities of hardware rather than sequential software execution

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

Solution Approach 2:

The patent segments the alignment process into distinct hardware modules: bit vector generation, parallel comparison, error tolerance checking, and result generation. This segmentation allows each module to be optimized independently and processed in parallel, reducing overall computational complexity while maintaining alignment accuracy for high-error-rate long reads

Inventive Principle:
Principle #1Segmentation

4Device complexity

If traditional memory access methods are used for sequence data, then system simplicity is maintained, but memory bus bottlenecks reduce processing efficiency

Engineering Contradiction:
Improvesystem simplicityVSAvoidprocessing efficiency
Core Design Contradiction:
Device complexityVSProductivity

Solution Approach 1:

The patent merges the memory storage and processing functions by implementing processing-in-memory (PIM) architecture. The bit vector data structures are stored in and processed from the same memory device, eliminating the need for separate memory access and data transfer operations. This merging of storage and processing eliminates memory bus bottlenecks while maintaining relative system simplicity through integrated design

Inventive Principle:
Principle #5Merging (Combining)

Data Source

PatentUS11941534B2Genome sequence alignment system and method
Publication Date: 2024.03.26 INTEL CORP
  • US11941534B2 patent drawing
  • US11941534B2 patent drawing
  • US11941534B2 patent drawing

AI summary

A system is provided that includes a bit vector-based distance counter circuitry configured to generate one or more bit vectors encoded with information about potential matches and edits between a read and a reference genome, wherein the read comprises an encoding of a fragment of deoxyribonucleic acid (DNA) encoded via bases G, A, T, C. The system further includes a bit vector-based traceback circuitry configured to divide the reference genome into one or more windows and to use the plurality of bit vectors to generate a traceback output for each of the one or more windows, wherein the traceback output comprises a match, a substitution, an insert, a delete, or a combination thereof, between the read and the one or more windows.