GenomeBoost

GenomeBoost - Ultra-fast Genome Analysis Software for Sequencing Data

Introduction

GenomeBoost is a high-speed genome analysis software that produces results identical to those from the GATK Best Practices pipeline, while achieving over 10× faster performance on most CPU-based servers — without requiring additional hardware such as GPUs or FPGAs. GenomeBoost is the core software of GenomeBoost Server™.

GenomeBoost is optimized based on the BWA implementation under the Apache License and integrates key functionalities of GATK, including MarkIlluminaAdapters, MergeBamAlignment, MarkDuplicates, BaseRecalibrator, and ApplyBQSR. The current version of GenomeBoost supports short-read data ranging from 75 bp to 300 bp.

GenomeBoost is proprietary software developed by Genome4me, Inc.
Please refer to the LICENSE file for details on the licensing policy.
The GenomeBoost BWA module is based on the BWA source code under the Apache License.

How to execute GenomeBoost

  1. Index the reference FASTA file.
    $ genomeboost index <reference fasta>
    
  2. Execute GenomeBoost to produce an analysis-ready SAM/BAM file.
    $ genomeboost preprocess --mark_illumina_adapter --fix_alignment --mark_dup \
      --bqsr <reference fasta> <read1.fastq> [<read2.fastq>]
    

The preprocess command automatically configures the number of threads and memory usage based on the available system resources.
Users can override these defaults using the --threads option to set the number of threads, and can control memory usage with either the --high-memory or --low-memory options.
The --high-memory option allows GenomeBoost to use more memory for faster performance (at the risk of running out of memory), while the --low-memory option limits memory usage to reduce the risk of out-of-memory errors.

The preprocess command also accepts standard BWA-MEM options such as -Y or -K.
For a complete list of available commands and options, run:

$ genomeboost --help
$ genomeboost preprocess --help

For input FASTQ files larger than 30x human WGS data, GenomeBoost may need larger memory than 64 GB. Because GenomeBoost leverages most of the system memory to execute faster, only a single GenomeBoost process should be executed at a time.

Please make sure that there is enough free disk space (at least 4× the size of input FASTQ files) because GenomeBoost stores intermediate data into temporary files.

GATK compatible output

By examining >430 human WGS datasets, we confirmed that GenomeBoost produces SAM output, mark-illumina-adapter metrics, mark-duplicate metrics, and BQSR report files identical to those of the GATK best-practice pipeline.
In our test, we used the WARP (WDL Analysis Research Pipelines) implementation of the GATK best-practice and the following software versions:

Detailed GATK steps

Here are the detailed steps of the GATK pipeline we tested:

The GATK WARP pipeline executes BaseRecalibrator and ApplyBQSR steps in multiple processes by dividing the whole genome into tens of intervals to run faster. However, the output results of the multi-process BaseRecalibrator are slightly different from the output files of a single-process BaseRecalibrator because of random numbers generated in the middle of the process.
To remove the random fluctuations in our test, we executed the GATK BaseRecalibrator and ApplyBQSR in a single process and confirmed that the output files of GenomeBoost are identical to those of the GATK BaseRecalibrator and ApplyBQSR.

Support

If you have any questions about this software, please contact support@genome4me.com