SMRT DNA sequencing's long reads enable the characterization of the full scale of genetic variation, from SNPs to structural variation.  This comprehensive approach is essential to understanding the drivers underlying complex diseases such as cancer.  The fast time to result is especially beneficial in targeted resequencing projects, such as biomarker validation, and clinical research areas requiring rapid response, such as infectious disease and viral identification.  

 

The combination of protocols that will be offered will enable performace to be further tuned for specific applications.  For example, circular consensus sequencing, or repeated sequencing of the same single molecule, offers high detection sensitivity, which can be applied to projects focused on rare variants.  (Figure 16).

De Novo Sequencing

Genome assembly is both much easier and more complete with longer reads.  Specifically for complex genomes, long reads provide the context required to correctly place repeat regions.  Similarly, for metagenomics, long reads enable the identification of organisms within environmental or mixed population samples, such as microbiomes.  Overall less coverage is required, translating to lower project costs. 

Looking ahead, SMRT DNA sequencing will also have the capibility to provide haplotype information, which is critical for medical resequencing applications and diagnostics in the future.