Enhancing Structural Variant Analysis with Long-read Targeted Sequencing
(ONT Workflow Guide)
Celemics Targeted Sequencing Workflow for ONT Sequencing Platform Users
Celemics Provides an Optimized Workflow from Library Preparation to Target Enrichment Designed to
Fully Leverage the Analytical Strengths of Oxford Nanopore-based Long-read Sequencing in Targeted Sequencing applications.
- Accurate Structural Variant Detection and Full-length Gene Analysis Enabled by Long-read Sequencing.
- ONT-optimized Workflow from Library Preparation through Target Enrichment.
- Enhanced per-sample Sequencing Cost Efficiency Enabled by Selective Target Enrichment and Multiplexing on a Single ONT Flow Cell.
- High Reproducibility with Enhanced Target-region Data Efficiency.
Celemics Workflow Compatible with the Oxford Nanopore Platform
Seamlessly integrated workflow optimized for ONT long-read sequencing, from library preparation to target enrichment. Ensures high data quality and efficient processing for accurate structural variant and complex genomic analysis.
Representative Long-read Use Cases | Targeted sequencing applications where long-read sequencing is essential
| Gene | Description |
|---|---|
| BRCA1 / BRCA2 |
· Full-length gene coverage · Robust analysis of repetitive regions and large genomic rearrangements |
| ERBB2 (HER2) |
· Copy number variation (CNV) and structural variant analysis · High-resolution structural analysis based on long-read sequencing |
| Pharmacogenomics |
· Analysis of highly polymorphic and structurally complex genomic regions, including CYP gene families · Accurate genotyping enabled by allele phasing |
Representative Long-read Use Cases | Targeted sequencing applications where long-read sequencing is essential
Pharmacogenomics-related genes such as GSTM1, CYP3A4, CYP2A6, and CYP2D6 exhibit complex genomic features, including gene deletions, copy number variations (CNVs), high sequence homology, and structural variants. ONT-based long-read sequencing enables full-length gene analysis, haplotype phasing, and highly confident allele calling in these complex genomic regions, effectively overcoming the limitations of short-read based approaches.
Celemics Product Portfolio for ONT Long-read Targeted Sequencing
1. Library Preparation Kit for Long-read Analysis
- Enzymatic fragmentation-based workflow
- Enables generation of ~2 kb libraries
- Supports Illumina Adapter and Index–based library construction
*Design library handles that are fully compatible with Illumina workflows - Provides software guidance for Illumina Index-based demultiplexing after Nanopore Sequencing
2. Target Enrichment Kit for Data Efficiency in Target Regions
- Optimized for complex genomic regions, enabling high analytical performance even in homologous and repetitive regions.
- Enhances per-sample sequencing cost efficiency through selective target enrichment and multiplexing on a single ONT flow cell
*Multiplexing of up to 96 samples supported - Supports haplotyping and allele-level analysis, as multiple variants can be captured within a single read.
- Improves data efficiency for target regions while maintaining the analytical advantages of long-read sequencing.
3. Custom Panel for Targeted Research Applications
- Flexible design tailored to target genes, configurations, and research objectives.
- Scalable application plans aligned with project stage. (Pilot to expansion)
- Covers BRCA1/2 Large Deletions, Large Rearrangements, and Homologous Regions.
- Enables accurate variant identification in pharmacogenomics genes with high pseudogene
homology, where short-read sequencing has limitations.
Order Information
| Cat. No. | Product Description | Product Unit (Samples) |
|---|---|---|
| XEXS016/032/048/096 | ONT; Library Prep Kit; UDI; Short Adapter | 16 / 32 / 48 / 96 |
| Cat. No. | Product Description | Product Unit (Samples) |
|---|---|---|
| WEXS.HX.ES16/96 | Celemics WES Panel; ONT; Target Enrichment Kit | 16 / 96 |
| CCDS.HX.ES16/96 | CancerScreen Comprehensive DNA Panel; ONT; Target Enrichment Kit | |
| ONCS.HX.ES16/96 | OncoRisk Panel; ONT; Target Enrichment Kit | |
| PHSS.HX.ES16/96 | PharmacoScreen Standard Panel; ONT; Target Enrichment Kit | |
| CUSS.HX.ES16/96 | Customized Panel; ONT; Target Enrichment Kit |
The Celemics ONT Long-read Targeted Sequencing workflow delivers a powerful combination of accuracy, flexibility, and efficiency for analyzing complex genomic regions. By integrating optimized library preparation, target enrichment, and customizable panel design, it enables reliable detection of structural variants, CNVs, and allele phasing with high confidence.
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