Target your critical genomic regions
Targeted sequencing allows researchers to focus on genes or regions of interest and generate highly accurate, long-read sequencing data in a cost-effective way.
Single Molecule, Real-Time (SMRT) Sequencing offers a flexible solution for targeting regions of interest, from several hundred base pairs to 20 kb, and delivers the most comprehensive view of the associated genes. With highly accurate long reads (>99% single-molecule read accuracy) it delivers the read length and accuracy needed to improve fine mapping and simplify the assembly of complex portions of the genome. SMRT Sequencing gives you the ability to:
- Rapidly screen and identify all variants
- Discover haplotype-specific markers
- Resolve difficult-to-sequence regions, regardless of size
- Confirm insertion sites of transgenes and validate gene editing events
Interested in using an amplification-free approach? Explore No-Amp targeted sequencing to enrich and sequence hard-to-amplify genomic regions.
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Sample and Library Prep |
| Fast and easy library preparation performed in a single tube. |
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Sequencing |
| Use the Sequel System to accurately sequence targets in the human genome. |
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Data Analysis |
| Analysis solutions for every user in the lab with the PacBio analytical portfolio. |
Application Brief: Learn more about these best practices for targeted sequencing of amplicons.
Spotlight: SMRT Sequencing uncovers novel causative mutations and resolves duplicated genes
PacBio long-read sequencing enabled scientists to detect a single causative mutation for autosomal dominate tubulointerstitial kidney disease (ADTKD) in MUC1 gene residing in a GC-rich variable number tandem repeat region (VNTR) that was previously intractable. Explore this research further:
Wenzel, A. et al., 2018. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Scientific Reports, 8(1), p.4170.
Selected Resources
- Vasan, Neil et al. (2019) Double PIK3CA mutations in cis increase oncogenicity and sensitivity to PI3Ka inhibitors. Science
- Hsieh, PingHsun et al. (2019) Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes Science
- Mitsuhashi, Satomi et al. (2019) Long-read sequencing for rare human genetic diseases. Journal of human genetics
- Ishiura, Hiroyuki et al. (2019) Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature genetics
- Wieben, Eric D et al. (2019) Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy. PloS one
- Iyer, Sukanya et al. (2019) Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. Nature
- Sierra, Johanna C et al. (2019) a-Difluoromethylornithine reduces gastric carcinogenesis by causing mutations in Helicobacter pylori cagY. Proceedings of the National Academy of Sciences of the United States of America
- Beck, Christine R et al. (2019) Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell
- Mayor, Neema P et al. (2019) Recipients receiving better HLA-matched hematopoietic cell transplantation grafts, uncovered by a novel HLA typing method, have superior survival: A retrospective study Biology of Blood and Marrow Transplantation
- Hafford-Tear, Nathaniel J et al. (2019) CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. Genetics in medicine
- Wang, Yang et al. (2019) Identification of a Xist silencing domain by Tiling CRISPR. Scientific reports
- Zablotskaya, Alena et al. (2018) Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability. BMC medical genomics
- Cumming, Sarah A et al. (2018) De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European journal of human genetics
- Suzuki, Shingo et al. (2018) Reference grade characterization of polymorphisms in full-length HLA class I and II genes with short-read sequencing on the Ion PGM system and long-reads generated by Single Molecule, Real-time Sequencing on the PacBio platform Frontiers in immunology
- Kondratyev, Nikolay et al. (2018) Prediction of smoking by multiplex bisulfite PCR with long amplicons considering allele-specific effects on DNA methylation. Clinical epigenetics
- Song, Janet H T et al. (2018) Characterization of a human-specific tandem repeat associated with bipolar disorder and schizophrenia. American journal of human genetics
- Höijer, Ida et al. (2018) Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing. Human mutation
- Ebbert, Mark T W et al. (2018) Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease. Molecular neurodegeneration
- Prokopuk, Lexie et al. (2018) Loss of maternal EED results in postnatal overgrowth. Clinical epigenetics
- Bultitude, W P et al. (2018) KIR2DL1 allele sequence extensions and discovery of 2DL1*0010102 and 2DL1*0010103 alleles by DNA sequencing. HLA
- Ardui, Simon et al. (2018) Detecting AGG interruptions in females with a FMR1 premutation by long-read Single-Molecule Sequencing: A 1 year clinical experience. Frontiers in genetics
- Cousin, Margot A et al. (2018) Utility of DNA, RNA, protein, and functional approaches to solve cryptic immunodeficiencies. Journal of clinical immunology
- Wenzel, Andrea et al. (2018) Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Scientific reports
- Borel, Florie et al. (2018) Editing out five Serpina1 paralogs to create a mouse model of genetic emphysema. Proceedings of the National Academy of Sciences of the United States of America
- Aneichyk, Tatsiana et al. (2018) Dissecting the causal mechanism of X-linked Dystonia-Parkinsonism by integrating genome and transcriptome assembly. Cell
- Turner, T R et al. (2018) Single molecule real-time (SMRT®) DNA sequencing of HLA genes at ultra-high resolution from 126 International HLA and Immunogenetics Workshop cell lines. HLA
- Reiner, Jennifer et al. (2018) Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. NPJ Genomic Medicine
- Poster: Zhu, Lei et al. (2021) Full-Length Sequencing of CYP2D6 Locus with HiFi Reads Increasing Genotypes Accuracy
- Poster: Harting, John et al. (2021) Resolving Complex Pathogenic Alleles using HiFi Long-Range Amplicon Data and a New Clustering Algorithm
- Poster: McLaughlin, Ian et al. (2021) Targeting Clinically Significant Dark Regions of the Human Genome with High-Accuracy, Long-Read Sequencing
- Poster: Zhu, Lei et al. (2021) Full-Length Sequencing of CYP2D6Variants with PacBio HiFi Reads
- Poster: Harting, John et al. (2021) Resolving Complex Pathogenic Alleles using HiFi Long-range Amplicon Data and a New Clustering Algorithm
- Poster: McLaughlin, Ian et al. (2021) Targeting Clinically Significant Dark Regions of the Human Genome with High-Accuracy, Long-Read Sequencing
- Poster: Ekholm, Jenny et al. (2020) Amplification-free targeted enrichment powered by CRISPR-Cas9 and long-read Single Molecule Real-Time (SMRT) Sequencing can efficiently and accurately sequence challenging repeat expansion disorders
- Poster: Tsai, Yu-Chih et al. (2020) Amplification-free protocol for targeted enrichment of repeat expansion genomic regions and SMRT Sequencing
- Poster: Neveling, K. et al. (2019) The value of long read amplicon sequencing for clinical applications
- Poster: van Min, M. et al. (2019) TLA & long-read sequencing: Efficient targeted sequencing and phasing of the CFTR gene
- Poster: Ekholm, J. et al. (2019) Sequencing the previously unsequenceable using amplification-free targeted enrichment powered by CRISPR/Cas9
- Poster: Larrea, Andres et al. (2018) A simple segue from Sanger to high-throughput SMRT Sequencing with a M13 barcoding system
- Poster: McLaughlin, Ian et al. (2018) No-amp targeted SMRT sequencing using a CRISPR-Cas9 enrichment method
- Poster: Ekholm, J. et al. (2018) Amplification-free, CRISPR-Cas9 targeted enrichment and SMRT Sequencing of repeat-expansion disease causative genomic regions
- Poster: Ranade, S. et al. (2018) High-throughput SMRT Sequencing of clinically relevant targets
- Poster: Clark, Tyson A. et al. (2018) Amplification-free targeted enrichment and SMRT Sequencing of repeat-expansion genomic regions
- Poster: Chakraborty, Shreyasee et al. (2018) Mitochondrial DNA sequencing using PacBio SMRT technology
- Hoischen, Alexander (2021) Long Reads to Identify Hidden Structural Variants in Rare Disease
- Matsumoto, Naomichi (2021) The Utility of HiFi Long-Read WGS in Solving Patients with Rare Diseases
- Rowell, William and LIeras, Roberto (2021) A Bioinformatics Workflow for Comprehensive Detection and Prioritization of Variants with PacBio HiFi Reads
- Pastinen, Tomi (2021) Genomic Answers for Kids
- Ekholm, Jenny (2021) Increasing Solve Rates in Rare and Mendelian Disease Research with Long-Read Sequencing
- Lambert, Christine (2021) Scalable Workflow for Constructing HiFi Libraries
- Wenger, Aaron (2021) The Present and Future of HiFi Whole-Genome Sequencing for Rare Disease
- Weiand, Michael (2021) Gene Editing Validation with Single-Molecule Resolution Using Highly Accurate HiFi Reads
- Tome, Stephanie (2020) Improving the Prognosis and Genetic Counseling in DM1 Patients
- van Blitterswijk, Marka (2020) Long-read Sequencing to Assess an Expanded Repeat in C9orf72
- McEachin, Zachary (2020) Multiplex, Long-Read Sequencing of Ataxia Repeat Expansions
- Course, Meredith (2020) The Evolution and Function of a Large Tandem Repeat Associated with ALS
- (2020) Application Tutorial: Introduction to Targeted Sequencing with HiFi Reads
- Latham, Gary (2020) Virtual Global Summit: Long-range PCR meets long-read sequencing: Tandem technologies for tackling the toughest genes in carrier screening
- Aro, Lori (2020) Virtual Global Summit: When Accuracy Matters – SMRT Sequencing in clinical research and diagnostics
- (2020) Video Poster: Long-read amplicon sequencing to understand spinal muscular atrophy (SMA)
- Ameur, Adam (2020) Webinar: SMRT Sequencing applications for human genomics and medicine
- Hoijer, Ida (2020) SMRT Leiden: Cas9 off-target sequencing and analysis
- Ellis, Ethan (2019) User Group Meeting: Targeted PacBio Sequencing using Sage HLS-CATCH
- Aro, Lori and Heiner, Cheryl (2019) Webinar: Amplicon sequencing with confidence – High-fidelity, long-read PacBio sequencing solutions
- Scott, Stuart (2018) ASHG PacBio Workshop: Amplicon SMRT Sequencing applications in human genetics
- Song, Janet (2018) ASHG PacBio Workshop: Characterization of a large, human-specific tandem repeat array associated with bipolar disorder and schizophrenia
- Pillai, Nisha (2018) Webinar: Assessing the targeted regions using a PacBio Amplicon analysis applications
- Korlach, Jonas (2017) ASHG PacBio Workshop: PacBio applications updates & future roadmap
- Ranade, Swati (2017) Webinar: A paradigm shift in HLA sequencing: from exons to high-resolution allele-level HLA yyping
- Korlach, Jonas (2017) Webinar: Addressing “NGS Dead Zones” with third generation PacBio sequencing
- Kujawa, Steve (2017) Webinar: PacBio targeted sequencing of long amplicons using PCR or hybrid capture
- Turner, Stephen (2017) Webinar: An introduction to PacBio’s long-read sequencing & how it has been used to make important scientific discoveries
- Ameur, Adam (2017) AGBT Virtual Poster: Analysis method for amplification-free SMRT sequencing and assessment on repeat expansions in Huntington’s disease
- Clark, T. A. and Tsai, Y. and Greenberg, D. (2017) AGBT Virtual Poster: Targeted SMRT Sequencing of difficult regions of the genome using a Cas9, non-amplification based method
- (2017) Tutorial: Long amplicon analysis application [SMRT Link v5.0.0]
- Application Brochure: Gene editing validation with HiFi reads (2021)
- Application Brief: No-Amp targeted sequencing – Best Practices (2020)
- Technical Note: Preparing DNA for PacBio HiFi sequencing – Extraction and quality control (2020)
- Application Brief: Targeted sequencing for amplicons – Best Practices (2019)