Complete E2E workflow for germline WGS interpretation with Fabric Genomics
Analysis & bioinformatics
Powerful, integrated software tools for the UG 100
Our integrated analysis tools are optimized for speed, cost-efficiency, flexibility and accuracy for high quality omics data at scale.
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Analysis & bioinformatics solutions optimized for Ultima Genomics data
Unlock high quality germline and somatic data
- Our innovative flow chemistry and optical end-point detection method preserves base error information in supplementary quality tags that improve germline and somatic data quality. Leading variant calling workflows have been adapted for UG 100 sequencing data.
Application workflows compatible with leading third party software
- Leverage our application-specific secondary analysis workflows on-board the UG 100™ server to seamlessly process data and generate file formats, like CRAM and FASTQ, compatible with leading third-party analysis software.
Minimize the costs of large-scale data analysis
- The UG 100 Server runs on-board primary and secondary analysis without increasing run time. Save time and money on your data intensive experiments.
Integrated on-board
secondary analysis
Leverage a suite of pre-configured secondary analysis pipelines optimized for Ultima Genomics data to efficiently execute analysis. The UG 100 Sequencing Platform’s dedicated high-performance Server can robustly perform read and sample-level bioinformatics without impacting sequencing throughput.
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Features & Benefits
- Efficient on-board alignment
Reduce compute costs by running our on-board Ultima Aligner (UA), optimized to run on the UG 100 Server to efficiently handle 300bp single-end reads. The Ultima Aligner supports your preferred reference genome including alignment of MethSeq data.
- On-board secondary analysis & application-driven sample QC
Perform demultiplexing and UMI-aware duplication marking specifically adapted for single end reads. Generate a full suite of detailed general and application-driven sample QC metrics to ensure high accuracy in downstream data analysis.
- Flexible file formats for downstream pipelines
Use our UA on-board aligner to output aligned CRAM files ready to hand-off to variant calling pipelines including Ultima-adapted DeepVariant, Sentieon DNAscope, and GATK. Native integration with third-party software providers including 10x Genomics, Parse Biosciences, Scale Biosciences, Olink, and STARsolo.
- Alt-aware reference genome alignment
A derivative of BWA, the Ultima Aligner supports alt-aware alignment to reference genomes supplementary haplotypes for accurate detection of structural variations or alternative assemblies.
- Simple application-based read trimming
Select from a range of sequencing applications in your sample sheet and the UG 100 Server will automatically trim standard and custom sequencing adapters for full compatibility with downstream analysis tools.
- Compatible with leading variant calling solutions
The UG 100™ is now compatible with leading cloud and on-prem secondary analysis solutions. We partnered with AWS to offer our UG-adapted DeepVariant Ready2Run workflow on AWS HealthOmics at a $2 price per run in AWS US Regions (N. Virginia and Oregon). For pricing in other AWS regions please visit, AWS HealthOmics pricing.
Compatible with leading
variant calling pipelines
Run Ultima data on leading UG-adapted variant callers to utilize supplementary quality tags for improved translation from flow space to base space. Seamlessly process data generated on the UG 100 server for accurate calls on germline and somatic genomes.
Discover AWS Ready2Run| UG 100 Solaris VC Pipeline | Standard VC Pipeline | Cloud Pipeline Solutions |
|---|---|---|
| UG adapted DV | Google DeepVariant (DV) | Ready2Run on AWS HealthOmics, NVIDIA Parabricks, WDL |
| DNAscope with UG data model | Sentieon DNAscope | Binary, WDL |
| GATK UG flow mode | GATK | WDL |
Highly accurate variant calling on GIAB samples with UG-adapted DeepVariant
| INDEL | SNP | ||||||
|---|---|---|---|---|---|---|---|
| # of reads | Precision | Recall | F1 | Precision | Recall | F1 | |
| HG001 | 500,626,685 | 99.76% | 99.43% | 99.59% | 99.95% | 99.80% | 99.87% |
| HG002 | 527,092,708 | 99.84% | 99.56% | 99.70% | 99.99% | 99.77% | 99.88% |
| HG003 | 505,472,435 | 99.80% | 99.47% | 99.64% | 99.96% | 99.74% | 99.85% |
| HG004 | 509,418,653 | 99.82% | 99.53% | 99.67% | 99.98% | 99.79% | 99.89% |
| HG005 | 504,323,942 | 99.82% | 99.59% | 99.71% | 99.97% | 99.81% | 99.89% |
| Average | 509,386,885 | 99.81% | 99.51% | 99.66% | 99.97% | 99.78% | 99.87% |
Variant calling performance was assessed in comparison to reference truth sets within the UG high-confidence region (HCR), which covers >99% of the GIAB v4.2.1 HCR and excludes genomic areas where UG performance is consistently of lower confidence, such as homopolymer regions of length >12 bp and limited regions of low complexity (see Github here).
Compatible analysis and bioinformatics solutions
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Fully integrated 10x Genomics single cell and spatial transcriptomics workflows with Ultima Genomics UG 100™ Sequencing Platform
High-throughput protein analysis via the Olink® Explore HT kit and Ultima Genomics UG 100 Solaris™ sequencing workflow
Parse GigaLab and the Ultima Genomics UG 100™ Sequencing Platform drive 10 million single-cell cytokine perturbation experiment
A growing ecosystem of analysis and bioinformatics workflows for omics at scale
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