Highly accurate, comprehensive germline human whole-genome sequencing with only ~10 min of hands on time, without 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.
| 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.
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.
Performing analysis with mapped read technology
Louise Fraser, PhD, Associate Director in Assay Research and Development at Illumina, describes how mapped read technology, formerly constellation mapped reads, works and the types of analysis that can be performed.
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
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 secondary analysis, 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 secondary analysis, learn about the latest updates, read FAQs, and find product support.
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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.
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