Achieve simultaneous sequencing of genetic and epigenetic bases in DNA from a single sample with the Illumina 5‑base genome solution
Epigenetic modifications, such as DNA methylation, direct gene regulation without changing the underlying DNA sequence. Methylome analysis can reveal the patterns of methylation across the entire genome. These insights on gene regulation bring understanding to the impact of genetic mutations and can complement gene expression studies.
Multiomic approaches that combine genetic and epigenetic sequencing can help illuminate complex pathways of development and disease. The Illumina 5‑base genome solution enables simultaneous detection of genetic variants and methylation patterns. This next-generation sequencing (NGS) method offers accurate genome and methylome sequencing in a single, easy-to-use assay. Proprietary innovations that support the Illumina 5‑base solution include novel conversion chemistry and advanced algorithms for dual DNA and methylation annotations and visualizations.
The Illumina 5-base solution offers several benefits for researchers seeking to understand gene regulation.
5-base insights: Accurate genetic variant and methylation detection from a single assay
Simplicity: Single-step conversion and library prep completed in a single day*
Flexibility: Compatible with different sample types and with whole-genome or enrichment methods
Affordability: Efficient sequencing for both methylome and genome insights
Seamless solution from single provider: Illumina library prep-through-analysis solution and support
* Single-day library prep applies to the whole-genome sequencing version of the kit.
While conventional methylation conversion technologies convert unmethylated cytosine to thymine, Illumina proprietary conversion chemistry selectively converts methylated cytosine to thymine. As the majority of cytosines in a healthy human genome are unmethylated, selective conversion of methylated cytosine produces higher complexity libraries and, when combined with novel informatics, provides comprehensive, cost-effective 5-base insights.
The 5-base assay can replace two separate genetic and epigenetic sequencing assays, saving time and budgets, with minimal incremental sequencing for methylation insights.
Novel chemistry allows direct conversion of 5mC to T. The top row represents input DNA and the bottom row represents the converted DNA.
Discover the value of studying the methylome and genome, together, to unravel the mechanisms of genetic disease, cancer, and other complex diseases.
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Common methods for detecting DNA methylation use bisulfite or enzymes to convert unmethylated C to T. This reduces nucleotide diversity, making reads harder to align. Bisulfite treatment can also damage DNA, leaving data gaps. Illumina 5-base chemistry directly converts only 5mC to T in a simple, single step, which is nondamaging to DNA and retains library complexity.
Whole-genome sequencing covers the entire genome, while targeted enrichment sequencing focuses on select genomic regions. Both strategies can detect DNA methylation at single-base resolution.
The assay is compatible with multiple sample types, including cell-free DNA, and DNA extracted from blood, cell lines, or fresh-frozen tissue.
The Illumina 5-base solution detects 5-methylcytosine (5mC) along with unmodified bases, adenine (A), thymine (T), guanine (G), and cytosine (C). DNA methylation is a key epigenetic modification to regulate gene expression.
The 5-base bioinformatics solution does not require advanced expertise. It offers highly accurate variant and methylation detection. This is a simple, powerful, and easy-to-use multiomic analysis solution. Insights from Illumina Connected Multiomics are powered by DRAGEN analysis.
This poster shows simultaneous detection of genomic and methylation signatures using a concise, integrated multiomic library prep.
Perspectives on the Illumina 5-base solution
Dr Cande Rogert explores the Illumina 5-base genome solution for methylation profiling and variant detection with DRAGEN analysis.
Overview of the Illumina 5-base solution
This overview of Illumina 5-base technology explains how it unlocks dual omic insights more quickly and easily than ever before.
Learn about the advantages of NGS-based methylation sequencing and how it enables comprehensive exploration of the methylome.
Investigate methylation patterns across the genome to gain insight into gene regulation and identify potential biomarkers.
Use multiomics profiling to multiply discovery power and better connect genotype to phenotype.
Contact us to learn more about the Illumina 5-base solution for combined methylome and genome insights.
Your email address is never shared with third parties.