Targeted Sequencing

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.


  • 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.
  • Customer Story: Exploring the Genetics of Fragile X Syndrome, Paul Hagerman (UC Davis)
  • Virtual Poster – Evaluating the Potential of New Sequencing Technologies for Genotyping and Variation Discovery in Human Data, Mauricio Carneiro (Broad Institute)
  • Virtual Poster – Genome Variation in Chronic Viral Infection - SMRT Sequencing for HCV, Ellen Paxinos (Pacific Biosciences)
  • Virtual Poster – Single-Molecule HIV-1 Full Genome Sequence from Linked Transmission Pairs, Ellen Paxinos (Pacific Biosciences)
  • Virtual Poster – SMRT Sequencing of Whole Mitochondrial Genomes to Study Metabolic Disease, Penelope Bonnen (Baylor)
  • Webinar: Data Processing and Analytics for Follow-up Validation in Resequencing Projects, Mark DePristo (Broad Institute)
  • Webinar: Highlighting Unexplored Genomic Regions with SMRT Sequencing – Informatics for Structural Event Detection in PacBio, Ali Bashir (Mt. Sinai School of Medicine)
  • Webinar: High-throughput NGS for Screening of Microbial Pathogens, Ulf Gyllensten (Uppsala University)
  • Webinar: No Assembly Required - Extremely Long Reads for Full-length Transcript Isoform Sequencing, Jonas Korlach (Pacific Biosciences)
  • Webinar: Patterns of Structural Rearrangement in Cancer Revealed by Ultra-Long Read Sequencing, David Wheeler (Baylor College of Medicine)
  • Webinar: Resolving Complex Regions of Genomes using Long-read Sequencing Technology, Evan Eichler (University of Washington)
  • Webinar: Sequencing The Unsequenceable - Expanded CGG-repeat alleles of the fragile X gene, Paul Hagerman (UC Davis, School of Medicine)
  • Webinar: Simplified Characterization of Large Deletions using the PacBio Sequencing Platform , Gabor Matyas, (Center for Cardiovascular Genetics)
  • Webinar: Targeting Complex Structural Motifs in Genes And Haplotypes with Long-Read SMRT Sequencing, Swati Ranade (Pacific Biosciences)
  • Webinar: Whole Human Genome SMRT Sequencing Reveals Uncharacterized Structural Variations Providing a Path to More Informed Diagnostic Testing, Eric Schadt (Mt. Sinai)
  • Brochure: PacBio RS II Sequencing System
  • Case Study: A New Hope in Acute Myeloid Leukemia Treatment
  • Case Study: In Broad Institute Study, PacBio RS Demonstrates "Outstanding" Accuracy for SNP Validation
  • Case Study: Precise Sizing and SMRT Sequencing offer Unprecedented Read Length for Clinical Studies
  • Case Study: SMRT Sequencing Provides a First Look at Repeat Expansion Disorder Sequence
  • Perspective Understanding Accuracy in SMRT Sequencing
  • Poster: Allele-Level Sequencing and Phasing of Full-length HLA Class I and II Genes Using SMRT Sequencing Technology, Swati Ranade (Pacific Biosciences)
  • Poster: Characterization of NNRTI Mutations in HIV-1 RT Using Single Molecule, Real-Time SMRT Sequencing, Anand Sethuraman (Pacific Biosciences)
  • Poster: Complete HIV-1 Genomes from Single Molecules – Diversity Estimates in Two Linked Transmission Pairs using Clustering and Mutual Information, Michael Brown (Pacific Biosciences)
  • Poster: Detection of Minor Variants and Viral Haplotypes using SMRT Sequencing, Anand Sethuraman (Pacific Biosciences)
  • Poster: Evaluating the Potential of New Sequencing Technologies for Genotyping and Variation Discovery in Human Data, Mauricio Carneiro (Broad Institute)
  • Poster: Full-Length cDNA Sequencing on the PacBio RS, Elizabeth Tseng (Pacific Biosciences)
  • Poster: High Sensitivity Detection of Colorectal Cancer Mutations using Third Generation Single Molecule Sequencing, Giancarlo Russo (ETH Zurich)
  • Poster: High-throughput Analysis of Full-Length Proviral HIV-1 Genomes from PBMCs, Hiromi Imamichi (NIAID)
  • Poster: Long Amplicon Analysis: Highly Accurate, Full-length, Phased, Allele-Resolved Gene Sequences from Multiplexed SMRT Sequencing Data, Brett Bowman (Pacific Biosciences)
  • Poster: Long-Read, Single-Molecule Applications for Protein Engineering, Erik Miller (Pacific Biosciences)
  • Poster: Next Generation Sequencing of Full-Length HIV-1 env During Primary Infection, Melissa E. Laird (University of California)
  • Poster: Single Molecule, Real-Time Sequencing of Full-length cDNA Transcripts Uncovers Novel Alternatively Spliced Isoforms, Tyson Clark (Pacific Biosciences)
  • Poster: Rapid Sequencing of HIV-1 Genomes as Single Molecules from Simple and Complex Samples, Michael Brown, Pacific Biosciences
  • Poster: SMRT Sequencing of Genes Implicated In Autosomal Recessive Diseases (Mount Sinai)
  • Poster: SMRT Sequencing of Whole Mitochondrial Genomes to Study Metabolic Disease, Adam English (Baylor College of Medicine)
  • Poster: SMRT Sequencing Sensitively Detects Polyclonal and Compound BCR-ABL in Patients Who Relapse on Kinase Inhibitor Therapy, Catherine Smith (UCSF)
  • Poster: Use of Next-Generation Sequencing Platforms to Determine HIV-1 Coreceptor Tropism, M.E. Quinones-Mateu (University Hospitals Case Medical Center)