Highly accurate, comprehensive germline human whole-genome sequencing with ~10 min of hands-on time and no traditional library prep.
Assay time
Hands-on time
Input quantity
TruPath Genome requires NovaSeq X System software version v1.4 or later.
TruPath Genome provides the simplest workflow for comprehensive human whole-genome variant detection with minimal hands-on time and seamless integration with the NovaSeq X Series.
| Assay time | ~29 hr, including sequencing time |
|---|---|
| Description | Resolves difficult-to-map regions and provides a comprehensive genome with improved structural variant detection and phased reads and variant calls |
| Hands-on time | ~10 min |
| Input quantity | 350 ng |
| Instruments | NovaSeq X System, NovaSeq X Plus System |
| Mechanism of action | On-flow cell tagmentation |
| Method | Whole-genome sequencing |
| Nucleic acid type | DNA |
| Number of reactions | 2 or 8 samples per kit |
| Sample type details | High molecular weight DNA extraction kit recommended |
| Specialized sample types | Blood, Buccal swabs, Saliva |
| Species category | Human |
| Technology | Sequencing |
| Variant class | Short tandem repeats (STRs), Single nucleotide polymorphisms (SNPs), Loss of heterozygosity (LOH), Chromosomal abnormalities, Germline variants, Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels), Copy number variants (CNVs), Gene rearrangements |
The TruPath Genome kit includes a NovaSeq X C2 or C8 flow cell, TruPath reagents, the necessary sequencing products for the NovaSeq X or NovaSeq X Plus sequencing system with software version v1.4 or later, and DRAGEN Germline analysis.
TruPath Genome enables human whole-genome sequencing with improved coverage, higher accuracy variant detection, and unprecedented simplicity.
| Instrument | Recommended number of samples | Read length |
|---|---|---|
| NovaSeq X System | 2 samples with a C2 flow cell per run, 8 samples with a C8 flow cell per run |
2 × 150 bp |
| NovaSeq X Plus System | 2 samples with a single C2 flow cell run, 4 samples with a dual C2 flow cell run, 8 samples with a single C8 flow cell run, 16 samples with a dual C8 flow cell run |
2 × 150 bp |
Unlock long-distance genomic information, resolve challenging-to-map regions, and simplify your sequencing workflow with mapped read technology.
Whole human genome haplotyping
Phased sequencing distinguishes between maternally and paternally inherited alleles. This information is useful in genetic disease research.
Learn how NGS solutions enable accurate, simple structural variant detection across complex genomic regions.
| Illumina TruPath Genome | TruSeq DNA PCR-Free | Illumina DNA PCR-Free Prep | |
|---|---|---|---|
| Assay time | ~29 hr, including sequencing time | 5 hr total assay time | ~1.5 hr |
| Description | Resolves difficult-to-map regions and provides a comprehensive genome with improved structural variant detection and phased reads and variant calls | A simple, all-inclusive PCR-free prep for whole-genome sequencing studies with the ability to sequence through challenging regions of the genome. | Prepare sequencing libraries for sensitive applications using a unique combination of on-bead tagmentation with PCR-free chemistry which simultaneously eliminates PCR-induced bias and reduces total library prep time to 90 minutes. |
| Hands-on time | ~10 min | 4 hr | ~45 min |
| Input quantity | 350 ng | 1 ug DNA | 25 ng to 300 ng |
| Instruments | NovaSeq X System, NovaSeq X Plus System | MiSeq System, NextSeq 550 System, NextSeq 2000 System, NextSeq 1000 System, MiSeqDx in Research Mode, MiniSeq System, NovaSeq X System, NextSeq 500 System, NovaSeq 6000 System, NovaSeq X Plus System | MiSeq System, NextSeq 550 System, NextSeq 2000 System, NextSeq 1000 System, MiSeqDx in Research Mode, NextSeq 550Dx in Research Mode, NovaSeq X System, NextSeq 500 System, NovaSeq 6000 System, NovaSeq X Plus System |
| Mechanism of action | On-flow cell tagmentation | Mechanical DNA fragmentation and adapter ligation. Workflow is PCR-free and gel-free. | Bead-linked transposome |
| Method | Whole-genome sequencing | Genotyping by sequencing, Whole-genome sequencing, Shotgun sequencing | Whole-genome sequencing, De novo sequencing |
| Nucleic acid type | DNA | DNA | DNA |
| Number of reactions | 2 or 8 samples per kit | ||
| Sample type details | High molecular weight DNA extraction kit recommended | ||
| Specialized sample types | Blood, Buccal swabs, Saliva | Not FFPE-compatible | Blood, Not FFPE-compatible, Low-input samples, Saliva |
| Species category | Human | Other, Mammalian, Mouse, Human, Rat, Plant | Any species, Human |
| Technology | Sequencing | Sequencing | Sequencing |
| Variant class | Short tandem repeats (STRs), Single nucleotide polymorphisms (SNPs), Loss of heterozygosity (LOH), Chromosomal abnormalities, Germline variants, Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels), Copy number variants (CNVs), Gene rearrangements | Single nucleotide polymorphisms (SNPs), Gene fusions, Loss of heterozygosity (LOH), Somatic variants, Chromosomal abnormalities, Germline variants, Structural variants, Insertions-deletions (indels), Copy number variants (CNVs) | Short tandem repeats (STRs), Single nucleotide polymorphisms (SNPs), Somatic variants, Chromosomal abnormalities, Germline variants, Structural variants, Insertions-deletions (indels), Copy number variants (CNVs) |
Library Prep and Array Kit Selector
Find the right sequencing library preparation kit or microarray for your needs. Filter by method, species, and more. Compare, share, and order kits.
TruPath Genome flow cells are only compatible with the TruPath Genome sequencing workflow on the NovaSeq X Series. Although TruPath Genome kits are bundled with reagents shared with NovaSeq X Series kits, TruPath Genome flow cell estimated data output differs from standard kits. Note that dual flow cell runs deliver twice the output shown in the table. For full TruPath Genome output metrics and secondary analysis details, see the TruPath Metrics section of the TruPath Genome software documentation.
| TruPath Genome flow cell type | NovaSeq X Series C2 flow cell | NovaSeq X Series C8 flow cell |
|---|---|---|
| Read configuration | 2 × 151 bp | 2 × 151 bp |
| Sample throughput per flow cell | 2 human genomes | 8 human genomes |
| Output per flow cella,b | ~482 Gb | ~1928 Gb |
| Single-end reads passing filter per flow cella,b | ~1.6B–2B | ~6.4B–8B |
| Paired-end reads passing filter per flow cella,b | ~3.2B–4B | ~12.8B–16B |
| Quality scoresc | ≥ 85% of bases higher than Q30 | ≥ 85% of bases higher than Q30 |
| Run timed | ~29 hr | ~29 hr |
Estimated output based on extracted cell or blood DNA sequenced with TruPath Genome reagents. NovaSeq X Plus System is capable of single or dual flow cell runs. Dual flow cell run delivers twice the output listed above. NovaSeq X System is capable of single flow cell runs.
Performance at the higher range of expected output is not guaranteed. Actual output is dependent on DNA quality, loading quantity, and other experimental factors.
A quality score (Q-score) is a prediction of the probability of an error in base calling. The percentage of bases > Q30 is averaged across the entire run. Quality scores are based on NovaSeq X Series C2 and C8 TruPath Genome reagents run with extracted cell or blood DNA. Performance may vary based on DNA quality, loading quantity, and other experimental factors.
Run time includes automated cluster generation, sequencing, automated post-run wash, and base calling. Run times are based on extracted cell or blood DNA sequenced with TruPath Genome reagents at supported loading quantities. Performance may vary based on DNA quality, loading quantity, and other experimental factors.
Illumina mapped read technology
Explore proximity mapped read technology, featuring rapid on-flow cell library preparation and novel informatics that incorporate proximity data from neighboring nanowells to deliver long-range genomic insights and unlock exceptional whole-genome assay performance.
Dr Steve Barnard introduces mapped read technology
Steve Barnard, PhD, CTO of Illumina, introduces mapped read technology for human genome sequencing, joined by Niall Lennon, PhD, Chair and CSO of Broad Clinical Labs, sharing preliminary data and insights.
TruPath Genome performs across various DNA samples from different sources, samples of varying quality, and multiple input quantities
On-flow cell library prep and cluster proximity information unlock long-distance genomic information and novel insights
Mapped read technology uses a highly simplified NGS workflow that enables on-flow cell library prep that effectively eliminates standard library prep prior to sequencing
Marcel Nelen, head of Genome Diagnostics at UMC Utrecht, one of eight academic centers supporting rare disease diagnostics nationwide, shares his experience, impressions, and what this technology could mean for clinical genomics.
Illumina TruPath™ Genome (NovaSeq™ X C8 flow cell)
20157405
Includes: C8 flow cell, TruPath Reagent kit, Lyo insert, library strip tube, 300c sequencing cartridge, and buffer cartridge.
Illumina TruPath™ Genome (NovaSeq™ X C2 flow cell)
20157406
Includes: C2 flow cell, TruPath Reagent kit, Lyo insert, library strip tube, 300c sequencing cartridge, and buffer cartridge.
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TruPath Genome uses proximity mapped read technology. Proximity mapped reads are standard short reads combined with proximity information from clusters in nearby nanowells to generate accurate long-range genomic insights. The workflow maintains the link between the original large DNA template and the resulting short reads for detecting structural variants, ultralong phasing of genetic variants, and improved resolution of difficult-to-map regions of the genome.
The first release of TruPath Genome is designed for human whole-genome sequencing.
The all-in TruPath Genome kit includes reagents and other required sequencing products. The current version of TruPath Genome must be sequenced on the NovaSeq X Series with v1.4 software or newer. Included analysis with DRAGEN Germline can occur on a local DRAGEN server or in the cloud-based Illumina Connected Analytics.
Purified genomic DNA is diluted in TruPath tagmentation buffer and added to the library tube strip, which is then inserted into the NovaSeq X reagent cartridge. TruPath reagents are then added to the cartridge. The cartridge and flow cell are loaded into the NovaSeq X Series and the run is started. Hands-on time is ~10 minutes.
DRAGEN Germline performs secondary analysis for germline variant detection. The data analysis can occur on a local DRAGEN server or in the cloud via Illumina Connected Analytics. The analysis combines sequencing data with nanowell proximity information to align the DNA with a reference sequence. Leveraging proximity mapped read information enables proper assignment of reads that previously didn't map to the reference genome, or that could only be aligned with low confidence.
Maximize genomic insights with Illumina DRAGEN apps and pipelines, learn about the latest updates, read FAQs, and find product support.
Operationalize informatics and drive scientific insights with Illumina Connected Analytics. Contact us for information on pricing, subscriptions, and more.
Maximize genomic insights with Illumina DRAGEN apps and pipelines, learn about the latest updates, read FAQs, and find product support.
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Enable CGP with a large pan-cancer panel covering all main variant classes plus key biomarkers (TMB, MSI, and HRD) from FFPE tissue.
Operationalize informatics and drive scientific insights with Illumina Connected Analytics. Contact us for information on pricing, subscriptions, and more.
DRAGEN Array provides accurate, comprehensive and efficient secondary analysis for Infinium microarrays.
Reach out for information about our products and services, or get answers to questions about our technology.
