Nanopore Sequencing

Provides combined genomic and epigenomic information from native DNA sequencing

Oxford Nanopore sequencing is a long-read, real-time sequencing technology that enables the analysis of DNA and RNA molecules without the need for amplification or fragmentation. This approach allows the study of native nucleic acids while preserving epigenetic modifications, providing a more comprehensive view of the genome and transcriptome. This is particularly relevant for research on rare diseases and complex genomic regions.

Key advantages for human genomics:

• Unrestricted read lengths: N50 exceeding tens of kilobases, enabling the resolution of complex genomic regions like structural variants (SVs), repeats, and full-length transcript isoforms
• Telomere-to-telomere genome reconstruction
• Direct detection of DNA methylation (4mC, 5mC, 5hmC, 6mA)
• Direct detection of RNA modifications (m5C, m6A, pseudouridine, 2’O‑methylations)
• Accurate phasing and variant calling, including SNVs, SVs, STRs, CNVs
• Adaptive sampling for targeted sequencing of specific genomic regions
• Real-time and scalable sequencing, suitable for large cohorts and translational research

Applications in Human Genome Research:

• Whole Genome Sequencing (WGS): complete genome coverage, including regions typically missed by short-read technologies
• Long-read sequencing of human transcriptome: full-length RNA sequencing allows for isoform characterization and quantification, revealing transcriptome complexity
• Epigenomics: haplotype-specific methylation information highlights the impact of maternal vs paternal chromosomes on gene function and phenotypic traits
• Study of rare diseases where haplotype-specific variants play a crucial role
• Metagenomics and characterization of human microbiome from patients' biological samples (leveraging the host depletion mode)

We offer end-to-end solutions, including DNA extraction and sample preparation services. In addition, we provide full support in study design to ensure that appropriate sequencing and bioinformatics strategies are applied to meet your project goals. Our experts work closely with clients to define the most effective approach.