Celemics Long-Read Sequencing Solution: ONT Platform Application Example
Introduction to ONT Long-Read Sequencing
The Oxford Nanopore Technologies (ONT) sequencing platform determines DNA sequences by directly measuring changes in electrical current as DNA molecules pass through nanoscale pores. A key advantage of this technology is that it allows direct sequencing without the need for DNA amplification, while generating exceptionally long reads. ONT can produce reads ranging from several kilobases to tens of kilobases in length, enabling clear analysis of complex genomic structures that are difficult to resolve with short-read sequencing. In addition, ONT offers real-time data acquisition, a simple instrument setup, and a flexible experimental workflow, which are major strengths of the platform.
Celemics’ Expansion to Long-Read Sequencing Platforms
Celemics has long provided various library preparation and target enrichment kits designed for short-read NGS platforms. Recently, the company developed and launched new library preparation and target enrichment kits optimized for long-read sequencing platforms. These new kits are built upon Celemics’ proven hybridization capture technology and probe design expertise established through its short-read products, and have been further optimized to perform efficiently on the ONT platform. As a result, target enrichment and amplification operate effectively even in long-read sequencing workflows.
Why Long-Read Sequencing Matters
While short-read sequencing platforms offer high accuracy and large-scale parallel processing, their short read length limits the analysis of structural variations and repetitive regions. In contrast, ONT’s long-read data can cover wide genomic regions within a single read, allowing direct identification of large-scale variations such as insertions, deletions, and inversions. This capability is particularly beneficial for regions with high sequence similarity, allowing more accurate discrimination between homologous gene sequences.
Benefits of Hybridization Capture in Long-Read Workflows
In hybridization-based target capture sequencing, long-read sequencing provides additional advantages for improving coverage in hard-to-capture regions that are often difficult to sequence using short reads. The extended length of long DNA fragments enables the capture of hard-to-capture regions through adjacent regions, resulting in more uniform target coverage and improved accuracy and reproducibility in variant detection.
As a result, the ONT platform enables not only the analysis of complex genomic structures but also more stable and precise interpretation in targeted sequencing. These characteristics make it applicable to a wide range of targeted sequencing applications.
Broad Applications: From WES to Pharmacogenomics
For example, it can be utilized effectively in large-scale panel studies such as Whole Exome Sequencing (WES), which comprehensively analyze extensive gene regions, as well as in specialized research areas such as Pharmacogenomics (PGx).
In PGx studies, where genes related to drug metabolism often contain pseudogenes and frequent copy number variations (CNVs), long-read sequencing provides a clear advantage for accurate identification and characterization of variants.
ONT Data Example 1: Coverage Across the Entire CYP2D6 Gene
Stable coverage was achieved across the CYP2D6 gene, which is located adjacent to highly homologous pseudogenes (CYP2D7P and CYP2D8P).
ONT Data Example 2: Improved Coverage Around a Hard-to-Capture SNP Marker
The region surrounding an SNP marker that was poorly captured with short-read sequencing showed continuous coverage improvement in ONT long-read data.
Conclusion
Celemics’ long-read sequencing solution—optimized for the ONT platform—enables precise analysis of complex genomic regions, enhanced coverage of hard-to-capture areas, and improved variant detection across applications such as WES and PGx. As ONT adoption continues to grow, these technologies provide powerful advantages for long-read–based targeted sequencing workflows.
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