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OHMX_High-throughput OMICS solutions

Targeted
sequencing

Targeted (Re)sequencing

Targeted sequencing has evolved significantly with the advent of advanced technologies like Oxford Nanopore’s real-time pore unblocking. This innovative approach enables researchers to selectively enrich for a whitelist of genes or deplete a blacklist, allowing for precise analysis of specific genomic regions. By leveraging real-time pore unblocking during sequencing, scientists can dynamically adjust their strategy to focus on particular genes of interest while efficiently minimizing unwanted sequences. This targeted methodology not only enhances the specificity and depth of sequencing but also optimizes resources by reducing time and costs associated with data generation and analysis. Consequently, real-time pore unblocking represents a powerful tool for researchers aiming to investigate genetic variants, mutations, or other important biomarkers with unprecedented accuracy.

Advantages of Targeted (Re)Sequencing

Focuses on Regions of Interest: Targeted sequencing isolates specific genes or genomic regions, generating a smaller, more manageable dataset that enhances the efficiency of downstream analyses.

Enables Deep Sequencing for Rare Variant Identification: High coverage levels can be achieved for targeted regions, improving the sensitivity of detecting rare variants that may be missed in broader sequencing methods.

Reduces Sequencing Costs: By concentrating on a predefined set of genes, researchers can significantly lower the overall costs associated with sequencing, as less data needs to be generated and processed.

Accelerates Turnaround Time: Targeted methodologies typically provide faster results than broader sequencing approaches, enabling timely decision-making in clinical or research settings.

Targeted (Re)Sequencing workflow

First, our wet-lab team will perform a quality analysis of the DNA samples provided by you. We will need at least 1µg of DNA. Only when the provided genomic DNA is of sufficient quality and quantity will we proceed with the next steps. In case the DNA provided to us is of insufficient quality and/or quantity, we will contact you and discuss how to proceed.

Then, your samples will be enriched for the set of genes or regions of your interest by bead capturing. From these enriched samples sequencing libraries are prepared by ligating adapters. After another quality assessment step these libraries are sequenced on one of our Illumina sequencers. The technical quality of the sequencing run is monitored in real time.

With Oxford Nanopore Technologies sequencers providing a whitelist containing sequences to be enriched or a blacklist containing sequences that should be depleted. The data is basecalled and aligned to the lists in real time. If the read does not match the desired sequence it is quickly removed from the pore allowing another read to be sequenced on this position. Leading to an enrichment for the regions of interest.

 Raw sequencing data can be transferred to you via the OHMX.bio server (FTP download) or the Illumina BaseSpace platform.