Targeted sequencing allows the researcher to focus on one or more specific regions of a genome and to sequence that target to a high level of coverage without generating significant quantities of off-target data. This increases the chance of finding biologically relevant variants.
Combined with the long reads of nanopore sequencing, this approach facilitates the understanding of:
- Structural variants such as inversions, copy number variants and microsatellites
- Phasing to elucidate molecular haplotypes important in disease, for example HLA-typing
- Single nucleotides variants which may be implicated in disease, using amplicons, whole exome or sequence capture
In addition to enhanced coverage, targeted sequencing offers simpler data analysis compared to whole genome sequencing, making the technique more accessible. The targeted approach opens up the opportunities for multiplexing in the experimental design further increasing the cost effectiveness of the targeted approach.
Batch or sequential sample analysis, you choose
Depending on the size of the target region and the coverage required, it is possible to combine samples in one sequence capture procedure. Barcoding provides the opportunity to examine the same target region across multiple samples in one experiment.
MinION also offers the opportunity to analyse one or more samples sequentially, meaning that cost-effective sequencing can be achieved without having to batch samples; experiments can be run when the samples are available.Publication on sequence capture
How are others using nanopore sequencing in targeted sequencing?
View these publications and movies to find out more.
Introducing multiplexed Nanopore sequencing in diagnostics for high-resolution class 1 HLA typing
Human Exome Mapper
A resequencing analysis workflow for sequence capture experiments
The workflow currently comes preloaded with the entire human exome, and following basecalling, reads are mapped to this reference. If appropriate, individual gene information is displayed, including coverage and the distribution of read accuracies at that position. Other genomes will be made available soon please register for updates.
Analysis begins as soon as sequence data starts being streamed (a few seconds after the experiment starts).
How do I get started?
You can start using MinION straight away.
For a $1,000 fee you receive a MinION and starter pack of flow cells and kits. You also get access to a thriving online community of MinION users.