Pacific Biosciences

Comprehensively characterize genomic variation with the PacBio RS II

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 II 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.

Benefits:

• Compound Mutations and Haplotype Phasing - Multi-kilobase reads facilitate the study of linked mutations hundreds, even thousands, of bases apart.
• Repeat Expansions - Long reads and low bias allow accurate sequencing across repeat expansions, even in low complexity regions.
• Full-Length Transcripts and Splice Variants - Single-molecule resolution and long reads span entire cDNAs, allowing full characterization of splicing in the transcriptome.
• Minor Variants and Quasispecies - Single molecule sequencing simplifies the analysis of mixed populations of sequences. Exquisitely sensitive and specific.
• SNP Detection and Validation - Single molecule sequencing detects and validates SNPs with high accuracy by avoiding mapping errors and systematic errors.