Multiomics

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[The] benefits of concurrent analysis of sequence identity, base modifications, real-time, and cost-effective generation of genome-wide data support the application of [Oxford Nanopore Technologies] in studying the brain and spinal cord in different diseases

Si, W. et al. J. Neuroimmunol. (2023)

  • Icon displaying a graphic of epigenetic base modification detection
    Capture genomic, transcriptomic, and methylation data directly from native DNA/RNA in a single assay
  • Icon displaying a graphic of any length nanopore reads
    Achieve full-genome coverage with unrestricted read lengths, including complex and repetitive regions
  • Icon displaying a graphic of splice variation
    Explore isoforms, splicing, genotypes, and extensive variant detection with precise single-cell and spatial resolution
Intro

Reveal more biology in a single assay

Multiomic studies utilise multiple omics methods — including genomics, transcriptomics, epigenomics, and proteomics — to gain a more comprehensive understanding of complex biology in health and disease. Combining various omics data types empowers researchers to create comprehensive disease models and enhance biomarker discovery.

Traditional multiomics approaches require multiple assays, platforms, and data analyses, resulting in complex and time-consuming workflows. Now, nanopore sequencing enables genomic, epigenomic, and transcriptomic — including single-cell, spatial, bulk, and targeted — analysis with any-length reads using streamlined workflows on a single platform. Nanopore technology generates ultra-rich data to shed light on complex biology, including single nucleotide variants (SNVs), structural variants (SVs), copy number variants (CNVs), short tandem repeats (STRs), haplotypes, DNA and RNA methylation, and full-length RNA transcript isoforms.

Animation image depicting multiomic nanopore sequencing

Technology comparison

Oxford Nanopore sequencing

Legacy short-read sequencing

Any read length (20 bp to >4 Mb)

Short read length (<300 bp)

  • Generate complete, high-quality genomes with fewer contigs and simplify de novo assembly
  • Resolve genomic regions inaccessible to short reads, including complex structural variants (SVs) and repeats
  • Analyse long-range haplotypes, accurately phase single nucleotide variants (SNVs) and base modifications, and identify parent-of-origin effects
  • Sequence short DNA fragments, such as amplicons and cell-free DNA (cfDNA)
  • Sequence and quantify full-length transcripts to annotate genomes, fully characterise isoforms, and analyse gene expression — including at single-cell resolution
  • Resolve mobile genetic elements — including plasmids and transposons — to generate critical genomic insights
  • Enhance taxonomic resolution using full-length reads of informative loci, such as the entire 16S gene
  • Assembly contiguity is reduced and complex computational analyses are required to infer results
  • Complex genomic regions such as SVs and repeat elements typically cannot be sequenced in single reads (e.g. transposons, gene duplications, and prophage sequences)
  • Transcript analysis is limited to gene-level expression data
  • Important genetic information is missed

Direct sequencing of native DNA/RNA

Amplification required

  • Eliminate amplification- and GC-bias, along with read length limitations, and access genomic regions that are difficult to amplify
  • Detect epigenetic modifications, such as methylation, as standard — no additional, time-consuming sample prep required
  • Create cost-effective, amplification-free, targeted panels with adaptive sampling to detect SVs, repeats, SNVs, and methylation in a single assay
  • Amplification is often required and can introduce bias
  • Base modifications are removed, necessitating additional sample prep, sequencing runs, and expense
  • Uniformity of coverage is reduced, resulting in assembly gaps

Real-time data streaming

Fixed run time with bulk data delivery

  • Analyse data as it is generated for immediate access to actionable results
  • Stop sequencing when sufficient data is obtained — wash and reuse flow cell
  • Combine real-time data streaming with intuitive, real-time EPI2ME data analysis workflows for deeper insights
  • Time to result is increased
  • Workflow errors cannot be identified until it is too late
  • Additional complexities of handling large volumes of bulk data

Accessible and affordable sequencing

Constrained to centralised labs

  • Sequence on demand with flexible end-to-end workflows that suit your throughput needs
  • Sequence at sample source, even in the most extreme or remote environments, with the portable MinION device — minimise potential sample degradation caused by storage and shipping
  • Scale up with modular GridION and PromethION devices — suitable for high-output, high-throughput sequencing to generate ultra-rich data
  • Perform cost-effective targeted analyses with single-use Flongle Flow Cells
  • Sequence as and when needed using low-cost, independently addressable flow cells — no sample batching needed
  • Use sample barcodes to multiplex samples on a single flow cell
  • Bulky, expensive devices that require substantial site infrastructure — use is restricted to well-resourced, centralised locations, limiting global accessibility
  • High sample batching is required for optimal efficiency, delaying time to results

Streamlined, automatable workflows

Laborious workflows

  • Lengthy sample prep is required
  • Long sequencing run times
  • Workflow efficiency is reduced, and time to result is increased