Comprehensively characterize genomic variation with the PacBio® RS
Targeted sequencing allows researchers to focus on specific areas of interest within the genome, increasing the cost-effectiveness of studies and the depth of coverage. One common use of targeted sequencing is single nucleotide polymorphism (SNP) detection and validation, where the ability to accurately identify true SNPs and distinguish them from false positives is extremely important.
The PacBio RS directly measures individual molecules, using long reads to fully characterize genetic complexity, including rare SNPs, indels, structural variants, haplotypes and phasing. Single molecule resolution allows comprehensive characterization of heterogeneous samples and identification of variation invisible to multi-molecule sequencing technologies.
PacBio RS benefits:
- Reduced false positives – no systematic bias provides confidence in results, higher positive predictive value
- Observation of structural variants – long read lengths provide characterization of variants
- Ability to resolve phasing of mutations – observation of haplotypes and correlation to phenotypes or drug response
- Access to the entire genome – flexibility to sequence through repetitive and GC-rich regions
