FPGA Genomics Pipeline for Faster Variant Calling and Alignment

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Solution Overview

Problem

Existing computational methods for high-throughput DNA sequencing analysis face challenges in managing the explosive growth of genomic data, requiring increased accuracy, sensitivity, and efficiency, while traditional software-based solutions are labor-intensive and prone to errors.

Innovation Solution

A hardware-based platform utilizing integrated circuits, such as FPGAs and CPUs, configured for performing secondary and tertiary genomic analysis pipelines, including mapping, aligning, and variant calling, with quantum processing units for accelerated performance, optimizing data storage and retrieval.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Ease of operation

If software-based computational tools are used for genomic data analysis, then flexibility and ease of implementation are improved, but processing speed and efficiency deteriorate

Engineering Contradiction:
Improveease of implementationVSAvoidprocessing speed
Core Design Contradiction:
Ease of operationVSProductivity

Solution Approach 1:

The patent replaces software-based computational processing with hardware-based processing using FPGAs and ASICs. This substitution transforms the mechanical/software system into a hardware system, achieving orders of magnitude faster processing speeds while maintaining the ability to perform genomic analysis functions through configurable hardware logic.

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

Solution Approach 2:

The patent changes the fundamental parameter of processing architecture from software execution on general-purpose processors to hardware implementation on specialized circuits. This parameter change enables parallel processing capabilities and deterministic timing, directly addressing the speed limitation while preserving operational flexibility through reconfigurable hardware.

Inventive Principle:
Principle #35Parameter changes

2Adaptability or versatility

If traditional processors are used for genomic data analysis, then compatibility with existing software tools is improved, but processing accuracy and sensitivity deteriorate

Engineering Contradiction:
Improvesoftware compatibilityVSAvoidanalysis accuracy
Core Design Contradiction:
Adaptability or versatilityVSMeasurement precision

Solution Approach 1:

The patent segments the genomic analysis pipeline into distinct functional modules (mapping, alignment, variant calling) that can be independently implemented in hardware. Each module processes specific aspects of the data with optimized logic, improving accuracy while maintaining overall system versatility through modular architecture that can handle multiple analysis types.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent creates hardware copies of computational algorithms that were traditionally executed as software. By implementing mapping, alignment, and variant calling algorithms in hardware logic, the system achieves higher precision while maintaining compatibility with standard genomic data formats and analysis workflows through preserved functional interfaces.

Inventive Principle:
Principle #26Copying

3Productivity

If more processors are added to increase throughput, then processing capacity is improved, but power consumption and operational costs worsen

Engineering Contradiction:
Improvethroughput capacityVSAvoidpower consumption
Core Design Contradiction:
ProductivityVSUse of energy by moving object

Solution Approach 1:

The patent merges multiple processing functions into a single integrated hardware platform. By combining mapping, alignment, and variant calling capabilities in one FPGA or ASIC device, the system achieves high throughput without the linear increase in power consumption that would result from adding multiple separate processors, as shared hardware resources serve multiple functions simultaneously.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The patent transitions from increasing throughput by adding more processing units (vertical scaling) to increasing throughput by utilizing parallel processing capabilities within a single hardware device (horizontal scaling). This dimensional change in the processing architecture enables high capacity with reduced power consumption by leveraging spatial parallelism rather than temporal or additive scaling.

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

Data Source

PatentUS20250218542A1Bioinformatics Systems, Apparatuses, and Methods for Performing Secondary and/or Tertiary Processing
Publication Date: 2025.07.03 ILLUMINA INC
  • US20250218542A1 patent drawing
  • US20250218542A1 patent drawing
  • US20250218542A1 patent drawing

AI summary

A system, method and apparatus for executing a bioinformatics analysis on genetic sequence data is provided. Particularly, a genomics analysis platform for executing a sequence analysis pipeline is provided. The genomics analysis platform includes one or more of a first integrated circuit, where each first integrated circuit forms a central processing unit (CPU) that is responsive to one or more software algorithms that are configured to instruct the CPU to perform a first set of genomic processing steps of the sequence analysis pipeline. Additionally, a second integrated circuit is also provided, where each second integrated circuit forming a field programmable gate array (FPGA), the FPGA being configured by firmware to arrange a set of hardwired digital logic circuits that are interconnected by a plurality of physical interconnects to perform a second set of genomic processing steps of the sequence analysis pipeline, the set of hardwired digital logic circuits of each FPGA being arranged as a set of processing engines to perform the second set of genomic processing steps. A shared memory is also provided.