Enhance short-read genome sequencing with long-distance information using proximity mapped read technology, which powers TruPath Genome
Illumina sequencing has significantly advanced genome mapping methods, helping researchers achieve highly accurate coverage over the vast majority of the human genome.1 However, for a small percentage of the genome, mapping short reads to a reference genome remains challenging. These challenges primarily occur in repetitive or low-complexity regions, regions with high sequence homology, or large structural variations.
Proximity mapped read technology enables improved mapping in difficult-to-map regions of the genome, ultralong phasing of genetic variants, and enhanced detection of structural variants.
Proximity mapped read technology leverages on-flow cell library preparation and novel informatics that incorporate proximity information from clusters in nearby nanowells to generate long-range genomic insights. The unique and highly simplified workflow, available in the TruPath Genome assay, maintains the link between the original large DNA template and the resulting short sequencing reads.
Proximity mapped read technology, which powers the TruPath Genome assay, uses a unique workflow that provides comprehensive genome analysis.
On-flow cell library prep creates the simplest sample to sequencer WGS workflow
XLEAP-SBS chemistry on the NovaSeq X Series provides proven accuracy and scalability of 2-16 samples per run
Cluster proximity analysis unlocks exceptional long-distance information
Enhanced mapping resolves challenging regions and delivers an enhanced genome
Novel method improves detection of large structural rearrangements
In proximity mapped read technology, DNA extracted using standard or high-molecular weight methods is introduced onto a flow cell grafted with tranposases. DNA fragments are captured in nanowells through a process called tagmentation, and then sequenced. By capturing large DNA fragments, proximal nanowells produce a constellation-like pattern that allows clusters to be mapped back to the original fragments using novel algorithms with DRAGEN Germline analysis. This combines the proven accuracy of short-read sequencing with long-distance genomic insights to significantly improve mapping of challenging-to-map regions, enhance structural variant detection, and deliver ultralong phasing.
Figure 1a: Top view of constellation pattern
Figure 1b: Side view of constellation pattern
Figure 1: DNA attaches to the flow cell in a constellation pattern. The top view illustrates a small percentage of the tile showing DNA strands across the flow cell. The side view illustrates the template DNA undergoing tagmentation on the flow cell.
Powered by proximity mapped read technology, TruPath Genome enables human germline whole-genome sequencing (WGS) with improved coverage, higher accuracy variant detection, and unprecedented simplicity. On-flow-cell library prep eliminates standard library prep prior to sequencing.
Highly accurate, comprehensive germline human whole-genome sequencing.
The NovaSeq X Series delivers extraordinary throughput and accuracy to perform data-intensive applications at production scale.
DRAGEN Germline is an accurate and efficient (FASTQ to VCF) secondary analysis solution for whole genome, whole exome, and targeted panel NGS data.
Perspectives on proximity mapped read technology
Dr Stephen F. Kingsmore from Rady Children's Institute for Genomic Medicine shares his perspective on proximity mapped read technology and its potential impact on rapid WGS for rare genetic disease.
Mapping the future of WGS
Dr Joseph Devaney, Director of Laboratory Innovation Team at GeneDx, compares data and shares his perspectives on the potential impact of proximity mapped read (formerly constellation) technology.
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.
Hear Dr Steven Barnard from Illumina describe the latest Illumina innovations enabling revolutionary multiomic applications. Dr Niall Lennon from the Broad Institute of MIT gives his impressions on the workflow, early data, and exciting potential of proximity mapped read technology.
Proximity mapped read technology is currently available for the NovaSeq X Series. Analysis uses the DRAGEN Germline secondary analysis pipeline and is compatible with the Illumina whole-genome tertiary analysis solution.
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.
No, the experimental workflow does not require modifications to the sequencing system. The method only requires a novel sequencing recipe, making it readily accessible to researchers.
Long-read sequencing enables sequencing of intact long DNA molecules. The mapped read technology workflow introduces long template DNA directly to a patterned flow cell; proximal nanowells have a high probability of containing DNA from the same template. Reads can be informatically mapped with high confidence for applications that include detection of large structural variations, mapping low-complexity regions, and ultra-long phasing of variants.
Read mapping describes the process of determining the genomic location from which a sequence read originates. Alignment involves identifying similarities between two or more sequences. For example, a single read can align to more than one place in the genome but will only accurately map to one. Mapped read technology supports both mapping reads to a reference genome and alignment analysis.
Dr Steve Barnard introduces mapped read technology
Steve Barnard, PhD, CTO of Illumina, introduces constellation-mapped read technology for human genome sequencing, joined by Niall Lennon, PhD, Chair and CSO of Broad Clinical Labs, sharing preliminary data and insights.
Mapped read technology overview and data highlights
See how on-flow cell library prep and proximity information from neighboring nanowells enable long-range genomic insights.
Poster
Structural variant detection with proximity mapping
Identify complex structural rearrangements using machine learning and colocation analysis of mapped reads.
Poster
Get an unbiased view of the entire human genome and evaluate the genetic variants that encode human traits and disease.
Genomics is driving a fundamental shift in understanding the genetic variants underlying rare diseases.
Gain deep insights into complex regions of the genome such as highly repetitive regions, large inversions, and translocations.
Learn how proximity mapped read technology, which powers TruPath Genome, can help you unlock long-distance genomic information and novel insights.
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