Overview
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.
Simplest sample to sequencing system workflow with ~10 minutes hands-on prep time
High-accuracy short-read sequencing with long-distance genomic insights in a single assay using the NovaSeq X Series
Comprehensive, accurate variant detection for enhanced structural variant detection, resolving difficult-to-map regions, and ultralong phasing
Applications
TruPath Genome enables human whole-genome sequencing with improved coverage, higher accuracy variant detection, and unprecedented simplicity.
Example workflow
TruPath Genome
NovaSeq X Series
DRAGEN Germline
Project recommendations
Instrument: Recommended number of samples
NovaSeq X System: 2 samples with a C2 flow cell per run, 8 samples with a C8 flow cell per run
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 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
Related applications and methods
Mapped read technology
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.
Structural variant detection
Learn how NGS solutions enable accurate, simple structural variant detection across complex genomic regions.
Video resources
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.
Other resources
TruPath Genome performance across various samples
TruPath Genome performs across various DNA samples from different sources, samples of varying quality, and multiple input quantities
Illumina mapped read technology
On-flow cell library prep and cluster proximity information unlock long-distance genomic information and novel insights
Introducing mapped read technology
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
Early Experience with Illumina TruPath Genome
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. View less
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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. View less
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How does TruPath Genome work?
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.
What species is Illumina TruPath Genome compatible with?
The first release of TruPath Genome is designed for human whole-genome sequencing.
What is required to run TruPath Genome and analyze the resulting data?
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.
What is the workflow for Illumina TruPath Genome?
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.
How is Illumina TruPath Genome data analyzed?
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.
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