What is long-read sequencing?
Long-read sequencing is a highly accurate approach that can be used to:
- Sequence traditionally challenging genomes, such as those containing stretches of highly repetitive elements
- Generate long reads for de novo assembly and genome finishing applications
- Perform whole human genome phasing to identify co-inherited alleles, haplotype information, and phase de novo mutations
Illumina long-read sequencing technology
Illumina Complete Long-Read technology (previously announced as “Infinity”) will power a novel, high-performance assay using standard next-generation sequencing (NGS) workflows and trusted Illumina sequencing by synthesis (SBS) chemistry.
The Illumina Complete Long-Read assay:
- Generates contiguous long-read sequences with N50 of 6–7 kb and read lengths > 30 kb
- Provides an efficient single-day workflow that is easy to scale
- Requires only 50 ng DNA input, with no specialized extractions, shearing, or size selection
- Leverages the accuracy and speed of DRAGEN analysis and the scalability of Illumina Connected Analytics
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Illumina long-read sequencing products
Illumina Complete Long-Read Prep
Illumina Complete Long-Read Prep, Human (launching in Q1 2023) is designed for human whole-genome sequencing (WGS). It provides a streamlined, integrated workflow compatible with all NovaSeq systems. This high-performance assay enables Illumina customers to generate thousands of highly accurate long-read genomes per year.
Illumina Complete Long-Read Prep with Enrichment
In addition to the whole-genome assay, Illumina long-read technology is compatible with enrichment. Targeted solutions focus on regions known to benefit from additional insight with longer reads. Future Illumina Complete Long-Read products with enrichment can create additional flexibility and scalability for human WGS and other applications.
Webinar: Long-Read Technology
See how Illumina long-read data can improve alignment and variant calling in traditionally challenging regions like repetitive regions, highly polymorphic regions, pseudogenes and paralogs, large indels, and structural variants.
Better Genome Sequencing and Human Phasing
Long-read sequencing technology has the potential to improve the efficiency and accuracy of many existing DNA sequencing applications while increasing the coverage of clinically important genes.
These advantages allow for the phased re‐sequencing of human genomes and rapid de novo sequencing of plant and animal genomes.
The long reads produced typically span more than one heterozygous SNP in the phasing application. The technology simplifies de novo sequencing because large repeat regions in the DNA fragments can easily be spanned.
Learn more about:
Long-distance sequencing with linked reads (TELL-Seq)
Ultra-long-range phasing
TELL-Seq technology generates ultra-long phasing blocks, providing an accessible solution to perform genome phasing studies.
Microbial de novo assembly
TELL-Seq demonstrates exceptional performance for microbial WGS, even for challenging samples or regions with high GC content.
Webinar: TELL-Seq
Researchers use transposase enzyme-linked long-read sequencing (TELL-Seq) to sequence and assemble genomes of nine insect species.
Related applications
Rare disease genomics
Understanding the variants associated with rare diseases can help researchers pinpoint the causes of genetic disorders.
Cancer whole-genome sequencing
Get a comprehensive base-by-base view of the unique genomic abnormalities in cancer.
Plant and animal sequencing
Sequencing can help identify novel species, improve our food supply, and ensure a sustainable environment.
Explore the NovaSeq 6000 System
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.
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