This novel technology will bring more light to even the darkest corners of the genome. Illumina Complete Long Reads help resolve the most challenging regions of the genome and makes long-read sequencing accessible and streamlined by enabling short and long reads from a single platform.
Illumina Complete Long Read technology powers a portfolio of novel, high-performance assays using standard next-generation sequencing (NGS) workflows and trusted Illumina sequencing by synthesis (SBS) chemistry.
Both long and short reads from your existing Illumina sequencing system. Easily integrates into standard NGS workstreams without specialized equipment. Comprehensive, push-button cloud analysis available on BaseSpace Sequence Hub or Illumina Connected Analytics.
Low (50 ng) DNA input, tolerant to contaminants and freeze/thaw cycles. Generate contiguous long-read sequences with N50 of 5-7 kb with as low as 10 ng input DNA. Highly flexible long reads that can scale from small targeted panels up to long-read whole genomes.
Simple, streamlined, and automation-friendly library prep without specialized equipment. Assay up to 3000 long-read whole genomes or tens of thousands of targeted long-read panels per year using NovaSeq X Series. Reduce batching requirements by assaying smaller sample numbers of targeted long reads using lower throughput consumables.
Powered by proven Illumina SBS and DRAGEN analysis on BaseSpace Sequence Hub or Connected Analytics. Capable of F1 score (SNVs + indels) of 99.90% for human whole genomes as measured by PrecisionFDA Truth Challenge v21 and enabling phased sequencing of regions > 100 kb.
Tagmentation is used to fragment and normalize long fragment sizes. Long fragments are “land-marked” to capture single-molecule, long-read information and amplified. Land-marked fragments can be enriched or move directly to tagmentation to standard libraries for sequencing. Marked and unmarked data are combined to generate highly accurate complete long reads.
Illumina Complete Long Read Prep, Human whole-genome sequencing workflow
Illumina Complete Long Read Prep with Enrichment, Human whole-genome sequencing workflow
Illumina Complete Long Reads and PrecisionFDA Truth Challenge v2 data sets
Illumina Complete Long Reads deliver unprecedented accuracy for variant calling with PrecisionFDA Truth Challenge v2 data sets,1 as measured by F1 score (%), a calculation of true positive and true negative results as a proportion of total results.
Illumina Complete Long Read Prep, Human, the first product based on Illumina Complete Long Reads, is designed for long-read human whole-genome sequencing (WGS).
Illumina Complete Long Reads with Enrichment is designed for human genome sequencing with complementary targeted long reads.
Extract DNA from blood or saliva with no specialized protocols, no shearing, and no size selection required
Prepare libraries using an automation-friendly workflow with recommended 50 ng or as low as 10 ng input DNA using standard equipment
Illumina Complete Long Read data can improve alignment and variant calling in traditionally challenging regions, highly polymorphic regions, pseudogenes and paralogs, large insertion–deletion variants, and structural variants.
Illumina Complete Long Reads can resolve highly polymorphic regions like the HLA-A gene. Uniform coverage in the HLA region enables accurate phasing of HLA alleles.
A heterozygous 180 bp deletion in the SEMG1 gene is clearly detected by both Illumina Complete Long Reads and on-market long reads.
Both Illumina Complete Long Reads and on-market long reads clearly resolve the 23 kb STRC gene from its pseudogene, pSTRC.
Low-coverage regions in the RHCE gene are resolved using Illumina Complete Long Read Prep with Enrichment and the Human Comprehensive Panel.
Illumina Complete Long Read Prep, Human with 5 ng to 1200 ng input DNA (in triplicate) generates similar data quality for N50 and phase block N50. N50 is the sequence length of the shortest contig (or phase block) at 50% of the total assembly length.
Perform phased sequencing with Illumina Complete Long Reads to identify co-inherited alleles, haplotype information, and phase de novo mutations.
Illumina Complete Long Read technology is compatible with the NovaSeq X Plus, NovaSeq X, and NovaSeq 6000 Sequencing Systems, giving you access to both long- and short-read data on the same instrument.
In this presentation, we share use cases of Complete Long Reads and highlight research being done by collaborators around the world.
This recorded presentation from our ASHG 2022 CoLab talk describes the benefits of our novel long-read technology and how it is complemented by other technical innovations in our roadmap.
Illumina Complete Long Read technology will help researchers address the edges of the genome that are the most challenging to map.
This in-depth article delves into the fundamental principles behind Illumina Complete Long Read human genome analysis.
This tech note outlines how Illumina Complete Long Read Prep with Enrichment, human complements proven Illumina short-read WGS and focuses long-read sequencing where it provides greatest value.