Advancing whole-genome sequencing with long-range data

Illumina TruPath^TM Genome revolutionizes whole-genome sequencing (WGS) by bringing together the accuracy and accessibility of short-read sequencing with long-range insights. It delivers a simplified research workflow using proximity-enhanced mapped read technology, requiring just 10 minutes of hands-on time.

The system is able to unlock challenging genomic regions, structural variants, and phased variant calls across the human genome, resulting in an extensive, high-accuracy human genome made simple.

Simplest sample-to-sequencer WGS workflow

The workflow delivers powerful genomic insights and only needs simple library preparation.

• Proximity information facilitates dependable mapping of exceptionally homologous, repetitive, and segmentally duplicated regions.
• The workflow recovers coverage of genes, including STRC and PMS2, which are comprised of >99% matching pseudogenes that typically confound traditional WGS.
• It enables reliable variant detection in ambiguous genomic regions where short reads usually fall short.

Image Credit: Illumina, Inc.

High-accuracy variant calling in difficult-to-map regions

Experience improved precision for SNVs, indels, and SVs.

• Benchmarking with HG002 significantly increases accuracy compared with competing technologies. 2
• Proximity-enhanced mapping improves SNV (single-nucleotide variant) and indel (insertion-deletion) accuracy across difficult-to-map regions.
• SV (structural variant) recall is considerably improved when compared to conventional sequencing techniques using DRAGEN^™ analysis and T2T-Q100 truth sets.

Effectively resolve challenging-to-map genes with TruPath Genome. Image Credit: Illumina, Inc.

Long-range genomic insights with ultra-long phasing and SV visualization

Reveal haplotype-resolved genomes and intricate rearrangements.

• Proximity-mapped read technology generates phased data from hundreds of kilobases up to multiple megabases, and performs haplotype-resolved variant calling.
• TruPath Genome phases up to 98% of small variants with input DNA extracted with a high molecular-weight kit.
• Multi-region joint detection (MRJD) produces precise variant calls across paralogous genes, limiting the requirement for reflex assays.
• High-resolution structural rearrangement maps are enabled, revealing long-distance insights.

Ultralong phasing with TruPath Genome on 30 matched HMW and standard extraction cell lines. Image Credit: Illumina, Inc.

Comprehensive WGS without complexity

TruPath Genome offers the most straightforward WGS workflow on the NovaSeq^™ X Series while expanding the possibilities of short-read sequencing.

Through the preservation of long-distance molecular relationships without complicated library prep, the sophisticated capabilities of TruPath Genome are delivered in a single, streamlined WGS assay:

• Mapping that can be trusted in complex genomic regions
• Improved structural variant resolution
• High-accuracy variant detection
• Ultra-long phasing

TruPath Genome sets a new standard for sophisticated human WGS, delivering fast and powerful results in high-throughput labs.

References 

1. Illumina Data on File, 2026
2. Illumina Data on File, 2026

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About Illumina, Inc

At Illumina, our goal is to apply innovative technologies to the analysis of genetic variation and function, making studies possible that were not even imaginable just a few years ago. It is mission critical for us to deliver innovative, flexible, and scalable solutions to meet the needs of our customers. As a global company that places high value on collaborative interactions, rapid delivery of solutions, and providing the highest level of quality, we strive to meet this challenge. Illumina's innovative sequencing and array technologies are fueling groundbreaking advancements in life science research, translational and consumer genomics, and molecular diagnostics.

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