Order the NovaSeq X Series
Advanced chemistry, optics, and informatics combine to deliver exceptional speed and data quality, outstanding throughput and scalability.
A cost-effective, flexible, targeted long-read solution to address challenging-to-map regions of the human genome.
Assay time
Hands-on time
Input quantity
Illumina Complete Long Reads with Enrichment, Human enables highly accurate, cost-effective, targeted long reads from low input DNA. This library prep kit adds cost-effective insights by utilizing long reads where they provide the most value by complementing a standard, short-read whole genome with the targeted long-read panel of choice. Note: Analysis requires standard, ≥ 30× short-read WGS data from the same sample to complement the targeted long reads.
Assay time | ~2 days |
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Description | Flexible, cost-effective targeted long reads coupled with short-read data for highly accurate WGS. Pair with a predesigned or custom panel to resolve challenging-to-map regions of the genome or add phased sequencing to regions of interest. |
Hands-on time | ~6 hr |
Input quantity | 50 ng DNA recommended; as low as 10 ng DNA |
Instruments | NovaSeq X System, NovaSeq 6000Dx in Research Mode, NovaSeq 6000 System, NovaSeq X Plus System |
Method | Targeted DNA sequencing, Custom sequencing, Phased sequencing, Long-read sequencing, Whole-genome sequencing, Target enrichment |
Multiplexing | Up to 384 samples per lane (depending on panel target size and sequencing output) |
Nucleic acid type | DNA |
Number of reactions | 24 or 96 reactions |
Specialized sample types | Blood, Not FFPE-compatible, Saliva |
Species category | Human |
Target insert size | Insert size: 500–700 bp, read length N50 5–7 kb |
Technology | Sequencing |
Variant class | Single nucleotide polymorphisms (SNPs), Germline variants, Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels), Copy number variants (CNVs) |
Illumina Complete Long Read Prep with Enrichment, Human includes core reagents for generating targeted long-read libraries. Purchase a probe panel for enrichment, either the premanufactured Human Comprehensive Panel (available to order separately or as part of the kit) or a predesigned or custom panel on the DesignStudio custom assay design tool.
What accessories do I need?
Illumina unique dual indexes are required, as well as sufficient iCredits to meet data storage and analysis needs based on throughput.
A standard short-read ≥ 30 x whole-genome library from the same sample is required for Illumina Complete Long Read with Enrichment analysis. Illumina DNA PCR-Free Prep is recommended for library preparation of the standard short- read whole genome. Third-party WGS kits are also compatible. Unmarked library does not need to be prepared or sequenced in parallel; FASTQ files from a previously assayed sample can be used.
Illumina Complete Long Read Prep with Enrichment, Human
Custom Panel
DRAGEN ICLR (Illumina Complete Long Read) with Enrichment App
Instrument | Recommended number of samples | Read length |
---|---|---|
NovaSeq 6000 System | Human Comprehensive Panel: 24 samples per S4 flow cell Large panels (15–25 Mb): ~75 samples per S4 flow cell Medium panels (5–15 Mb): ~187 samples per S4 flow cell Small panels (> 5 Mb): ~375 samples per S4 flow cell |
2 × 150 |
NovaSeq X System | Human Comprehensive Panel: 24 samples per 10B flow cell, 64 samples per 25B flow cell Large panels (15–25 Mb): ~75 samples per 10B flow cell, ~200 samples per 25B flow cell Medium panels (5–15 Mb): ~187 samples per 10B flow cell, ~500 samples per 25B flow cell Small panels (> 5 Mb): ~375 samples per 10B flow cell, ~1000 samples per 25B flow cell |
2 × 150 |
NextSeq 2000 System | Human Comprehensive Panel: 3 samples per P3 flow cell Large panels (15–25 Mb): ~9 samples per P3 flow cell Medium panels (5–15 Mb): ~22 samples per P3 flow cell Small panels (> 5 Mb): ~45 samples per P3 flow cell |
2 × 150 |
Human whole-genome sequencing provides the most detailed view into the complex genetic variants that make us unique.
Large whole-genome sequencing informs disease research and population genomics studies and reveals disease-associated alleles.
Illumina Complete Long Read Technology
Illumina Complete Long Read technology powers a portfolio of assays that enable highly accurate long and short read sequencing on a single instrument.
Illumina Complete Long Reads with Enrichment, Human | Illumina Complete Long Read Prep, Human | Illumina DNA Prep with Exome 2.5 Enrichment | Illumina DNA PCR-Free Prep | ||
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Assay time | ~2 days | ~7.5–8.5 hr | 6.5 hr | ~1.5 hr | |
Description | Flexible, cost-effective targeted long reads coupled with short-read data for highly accurate WGS. Pair with a predesigned or custom panel to resolve challenging-to-map regions of the genome or add phased sequencing to regions of interest. | Illumina Complete Long Read Prep, Human performs long-read human germline whole-genome sequencing using existing Illumina NovaSeq platforms. | A fast and easy-to-use library prep with enrichment workflow with a focused enrichment probe panel of up-to-date exome content for cost-effective and reliable human whole-exome sequencing. | Prepare sequencing libraries for sensitive applications using a unique combination of on-bead tagmentation with PCR-free chemistry which simultaneously eliminates PCR-induced bias and reduces total library prep time to 90 minutes. | |
Hands-on time | ~6 hr | 5–6 hr including (PCR and QC) | ~2 hr | ~45 min | |
Input quantity | 50 ng DNA recommended; as low as 10 ng DNA | 50 ng DNA recommended | 50-1000 ng high-quality genomic DNA (For direct blood and saliva, see reference guide) | 25 ng to 300 ng | |
Instruments | NovaSeq X System, NovaSeq 6000Dx in Research Mode, NovaSeq 6000 System, NovaSeq X Plus System | NovaSeq 6000Dx Instrument, NovaSeq X System, NovaSeq 6000 System, NovaSeq X Plus System | NextSeq 550 System, NextSeq 2000 System, NextSeq 1000 System, NextSeq 550Dx in Research Mode, NovaSeq X System, NovaSeq 6000 System, NovaSeq X Plus System | MiSeq System, NextSeq 550 System, NextSeq 2000 System, NextSeq 1000 System, MiSeqDx in Research Mode, NextSeq 550Dx in Research Mode, NovaSeq X System, NextSeq 500 System, NovaSeq 6000 System, NovaSeq X Plus System | |
Method | Targeted DNA sequencing, Custom sequencing, Phased sequencing, Long-read sequencing, Whole-genome sequencing, Target enrichment | Long-read sequencing, Whole-genome sequencing | Targeted DNA sequencing, Exome sequencing, Target enrichment | Whole-genome sequencing, De novo sequencing | |
Multiplexing | Up to 384 samples per lane (depending on panel target size and sequencing output) | Up to 48 | Pre-enrichment pooling of up to 12-plex is tested. Kit configuration supports multiplexing up to 192 samples. Up to 384 possible. | Up to 384-plex | |
Nucleic acid type | DNA | DNA | DNA | DNA | |
Number of reactions | 24 or 96 reactions | 8 or 24 | |||
Specialized sample types | Blood, Not FFPE-compatible, Saliva | Blood, Not FFPE-compatible, Low-input samples, Saliva | Blood, Saliva | Blood, Not FFPE-compatible, Low-input samples, Saliva, Not FFPE-compatible | |
Species category | Human | Human | Human | Any species, Human | |
Target insert size | Insert size: 500–700 bp, read length N50 5–7 kb | 500–700 bp | 450 bp +/- 75 bp | ||
Technology | Sequencing | Sequencing | Sequencing | Sequencing | |
Variant class | Single nucleotide polymorphisms (SNPs), Germline variants, Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels), Copy number variants (CNVs) | Short tandem repeats (STRs), Germline variants, Structural variants, Single nucleotide variants (SNVs), Insertions-deletions (indels) | Single nucleotide polymorphisms (SNPs), Loss of heterozygosity (LOH), Somatic variants, Germline variants, Insertions-deletions (indels), Copy number variants (CNVs) | Short tandem repeats (STRs), Single nucleotide polymorphisms (SNPs), Somatic variants, Chromosomal abnormalities, Germline variants, Structural variants, Insertions-deletions (indels), Copy number variants (CNVs) |
Targeted long reads enhance accuracy in challenging regions
False negative (FN) plus false positive (FP) variant calls for SNPs and indels in HG002 genic regions targeted by the (A) Human Comprehensive Panel or (B) CMRG panel, using Illumina Complete Long Read Prep with Enrichment (orange) compared to standard short-read WGS (blue).
Cost-effective human whole-genome coverage of challenging regions
Illumina Complete Long Read Prep with Enrichment, Human helps enhance coverage in challenging genic regions to complement standard short-read human WGS. IGV plot of RHCE sequenced using standard short-read WGS and Illumina Complete Long Reads with enrichment. Target regions noted in red.
Targeted long reads help resolve haplotypes in polymorphic genes
IGV plot from long-read sequencing using Illumina Complete Long Read Prep with Enrichment, Human. Phasing over a 722 kb region in the MHC locus. A 580 kb region (pink) is encapsulated in one phase block.
Targeted long reads help resolve haplotypes in polymorphic genes
IGV plots from long-read sequencing using Illumina Complete Long Read Prep with Enrichment, Human. HLA-C gene is fully phased. Reads are separated by haplotype.
Illumina Complete Long Read technology
Illumina Complete Long Read technology powers a portfolio of assays that enable highly accurate long and short read sequencing on a single instrument.
Illumina Complete Long Reads: Rare disease insights from complex genomes
In this presentation, we share use cases of Complete Long Reads and highlight research being done by collaborators around the world.
Illumina Complete Long Read Prep with Enrichment, Human (24 samples)
20113832
A library preparation and enrichment solution for long-read human whole- genome sequencing (WGS) applications
Illumina Complete Long Read Prep with Enrichment, Human (96 samples)
20113833
A library preparation and enrichment solution for long-read human whole- genome sequencing (WGS) applications.
Illumina Complete Long Read Prep with Enrichment, Human Comprehensive Panel (24 samples)
20113834
A library preparation and enrichment solution with a probe panel designed to address regions that will benefit long-read human whole- genome sequencing (WGS) applications
Illumina Complete Long Read Prep with Enrichment, Human Comprehensive Panel (96 samples)
20113835
A library preparation and enrichment solution with a probe panel designed to address regions that will benefit long-read human whole- genome sequencing (WGS) applications
Illumina Complete Long Read Prep with Enrichment, HCP-24, S4 Starter Pack
20113838
This package contains 1 ICLR ENR-24 sample kit, 1 HCP-24, 1 NovaSeq 6000 S4 (300) cyc kits, and support 24 samples
Illumina Complete Long Read Prep with Enrichment, HCP-24, 10B Starter Pack
20113839
This package contains 1 ICLR ENR-24 sample kit, 1 HCP-24, 1 NovaSeq X 10B (300) cyc kit, and support for 24 samples
Illumina Human Comprehensive Panel (24 samples)
20113836
A hybridization capture probe panel designed to target regions of the human genome that will benefit long-read whole-genome sequencing (WGS) applications
Illumina Human Comprehensive Panel (96 samples)
20113837
A hybridization capture probe panel designed to target regions of the human genome that will benefit long-read whole-genome sequencing (WGS) applications
Illumina® Unique Dual Indexes, LT (48 Indexes, 48 Samples)
20098166
Illumina® Unique Dual Indexes, LT (48 Indexes, 48 Samples)
Illumina® DNA/RNA UD Indexes Set A, Tagmentation (96 Indexes, 96 Samples)
20091654
Illumina® DNA/RNA UD Indexes Set A, Tagmentation (96 Indexes, 96 Samples) Includes 96, 10 bp indexes sufficient for labeling 96 samples. Purchase library prep and enrichment reagents and probe panels separately.
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Illumina® DNA/RNA UD Indexes Set B, Tagmentation (96 Indexes, 96 Samples)
20091656
Illumina® DNA/RNA UD Indexes Set B, Tagmentation (96 Indexes, 96 Samples) Includes 96, 10 bp indexes sufficient for labeling 96 samples. Purchase library prep and enrichment reagents and probe panels separately.
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Illumina® DNA/RNA UD Indexes Set C, Tagmentation (96 Indexes, 96 Samples)
20091658
Illumina® DNA/RNA UD Indexes Set C, Tagmentation (96 Indexes, 96 Samples) Includes 96, 10 bp indexes sufficient for labeling 96 samples. Purchase library prep and enrichment reagents and probe panels separately.
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Illumina® DNA/RNA UD Indexes Set D, Tagmentation (96 Indexes, 96 Samples)
20091660
Illumina® DNA/RNA UD Indexes Set D, Tagmentation (96 Indexes, 96 Samples) Includes 96, 10 bp indexes sufficient for labeling 96 samples. Purchase library prep and enrichment reagents and probe panels separately.
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Illumina Analytics - 1 iCredit
20042038
iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.
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Illumina Analytics Starter Pack - 1,000 iCredits
20042039
iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.
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Illumina Analytics - 5,000 iCredits
20042040
iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.
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Illumina® DNA PCR-Free Prep, Tagmentation (24 Samples)
20041794
Includes reagents and Illumina Purification Beads for preparing 24 libraries. Purchase index adapters separately.
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Illumina® DNA PCR-Free Prep, Tagmentation (96 Samples)
20041795
Includes reagents and Illumina Purification Beads for preparing 96 libraries. Purchase index adapters separately.
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