Complete Genomics DNBSEQ data and NVIDIA Parabricks yield deeper insights into genetic variants with deep learning
Complete Genomics today announced an integration of its next-generation sequencing (NGS) DNBSEQ platforms* with NVIDIA Parabricks software for secondary analysis that will help researchers access accurate, faster and more affordable genomic analysis.
While NGS has transformed how researchers detect and analyze genetic variants, helping them provide critical insights into diseases like cancer, they still face challenges to accurately identify these variants amidst sequencing errors and genomic complexity.
With the latest features in Parabricks, including support for new data formats, enhanced variant calling, and integrated deep learning, researchers can achieve faster, more accurate results. This synergy not only accelerates the pace of discovery but also reduces costs, making high-throughput genomic analysis accessible for both research and clinical applications. By leveraging these advanced technologies, the path towards precision medicine becomes clearer, enabling deeper insights into the genetic foundations of disease and more targeted therapeutic strategies.
“Our integration of NVIDIA Parabricks allows us to harness the full potential of our DNBSEQ-T7 sequencing platform,” said Rob Tarbox, VP of Product and Marketing at Complete Genomics. “By combining our high-quality sequencing data with Parabricks’ speed and accuracy, we’re enabling researchers to uncover variants more efficiently and cost-effectively, ultimately advancing precision medicine and improving patient outcomes,” he said.
George Vacek, Global Head of Genomics Alliances at NVIDIA, added, “The combination of Parabricks software and Complete Genomics’ sequencing technology creates a versatile and powerful tool for researchers, driving faster genomic analysis at lower costs and significantly accelerating scientific discovery across a variety of applications.”
Complete Genomics’ DNBSEQ technology brings low error rates, deep sequencing coverage, ideal for rare variants
Complete Genomics’ DNBSEQ (DNA Nanoball Sequencing) technology is known for its high accuracy, low error rates, and capability to produce deep sequencing coverage. The DNBSEQ-T7 platform with its ultra-high throughput and exceptional data quality can generate up to 7 Tb of data per day, with a maximum read length of 150 bp paired-end reads and an accuracy rate of more than 99.9%. This high output and accuracy make it particularly well-suited for detecting rare variants and gaining comprehensive insights into complex landscapes.
NVIDIA Parabricks now supports a wider range of sequencing data formats, faster processing times, reduced computational costs
The latest release of NVIDIA Parabricks, a suite of GPU-accelerated genomic analysis tools that significantly enhance the speed, accuracy, and efficiency of NGS workflows, introduces several new features and improvements. In addition to supporting a wider range of sequencing data formats, including those specific to DNBSEQ, ensuring seamless integration with various sequencing technologies, Parabricks has updated versions of popular variant calling tools, such as GATK and DeepVariant, optimized for GPU acceleration. These tools have improved sensitivity and specificity, making them more effective in identifying low-frequency variants.
Parabricks also offers built-in support for deep learning models, enabling the rapid analysis of complex genomic data and the accurate distinction between true variants and sequencing errors. Importantly, the new Parabricks includes updated speed and cost benefits:
- Faster Processing Times: By leveraging NVIDIA GPUs, Parabricks accelerates the entire genomic analysis pipeline. Using the DNBSEQ-T7 data, alignment tasks that typically take hours or days on traditional CPU-based systems can be completed in minutes. For example, aligning DNBSEQ-T7 reads to a reference genome is up to 50 times faster with Parabricks compared to traditional methods, significantly reducing time-to-insight.
- Real-Time Analysis: The speed of Parabricks allows for near real-time analysis of large datasets, which is crucial for research and clinical applications where timely decisions can impact patient outcomes.
- Reduced Computational Costs: The acceleration provided by GPUs means fewer computational resources are needed for each analysis, leading to lower costs. Researchers can process more data in less time without the need for extensive CPU infrastructure.
- Scalability: Parabricks allows for scalable solutions that can handle large-scale genomic projects. This scalability means that even with increased data volumes from technologies like DNBSEQ-T7, the cost per sample remains extremely manageable, making high-throughput sequencing projects more economically viable.
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