This novel technology will bring more light to even the darkest corners of the genome. Illumina Complete Long Reads helps 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 will power 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 NovaSeq platform. Easily integrates into standard NGS workstreams with included cloud analysis on BaseSpace Sequence Hub.
Low (50 ng) DNA input, tolerant to contaminants and freeze/thaw cycles. Generate contiguous long-read sequences with N50 of 5-7kb with as low as 5 ng.
Simple one-day library prep workflow without specialized equipment. Assay 4 samples per run, up to 3000 WGS samples per year, with NovaSeq X Series.
Powered by proven Illumina SBS and DRAGEN analysis on BaseSpace Sequence Hub. Highly accurate (99.87%) as measured by PrecisionFDA Challenge v2.
Tagmentation is used to normalize long fragment sizes. Long fragments are “land-marked” to capture single-molecule, long-read information and amplified. Marked fragments are tagmented to standard libraries for sequencing. Marked and unmarked data are combined to generate highly accurate complete long reads.
Illumina Complete Long Reads and PrecisionFDA Truth Challenge V2 data sets
Illumina Complete Long Read Prep, Human delivers 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.
In addition to the whole-genome assay, Illumina long-read technology is compatible with enrichment. Targeted solutions will 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 cost-effective human WGS.
Extract DNA from blood or saliva with no specialized protocols, no shearing, and no size selection required
Prepare libraries in a single day, with recommended 50 ng or as low as 10 ng input DNA, using standard lab equipment
Analyze using DRAGEN Illumina Complete Long Read app on BaseSpace Sequence Hub
Illumina Complete Long Read data can improve alignment and variant calling in traditionally challenging regions like repetitive 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.
Insertions in short tandem repeat (STR) regions are 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 SULT1A1 gene (a pharmacogenomic marker) from its pseudogene, SULT1A2.
Illumina Complete Long Read Prep, Human with DNA inputs from 5 ng to 1200 ng (in triplicate) generates similar data quality for N50 and phase block N50. N50 is defined as the sequence length of the shortest contig (or phase block) at 50% of the total assembly length.
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.