Focus in with access to the full spectrum of genetic variation
Accurately discover and detect all variant types even in the hardest to reach regions of the genome
Targeted Sequencing
Single Molecule, Real-Time (SMRT) Sequencing and the Sequel Systems allow you to easily and cost effectively generate highly accurate long reads (>99% single-molecule read accuracy) from genes or regions of interest ranging in size from several hundred base pairs to 20 kb. With SMRT Sequencing you can:
- Detect all variant types including structural variants, rare SNPs, indels, copy number variation, microsatellites, haplotypes, and phased alleles
- Sequence through low complexity regions like repeat expansions, promoters, and flanking regions of transposable elements
Explore further with workflows and tools for targeted sequencing customized for your research focus
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Learn more about workflows for these types of targeted sequencing
- No-Amp targeted sequencing – enrich and sequence hard-to-amplify genomic regions
- HLA Sequencing – detect and phase variation without imputation
Selected Resources
- Grech-Baran, Marta et al. (2020) Extreme resistance to Potato virus Y in potato carrying the Rysto gene is mediated by a TIR-NLR immune receptor. Plant biotechnology journal
- 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
- Van de Weyer, Anna-Lena et al. (2019) A Species-Wide Inventory of NLR Genes and Alleles in Arabidopsis thaliana. Cell
- 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
- Novák, Karel et al. (2019) Potential of TLR-gene diversity in Czech indigenous cattle for resistance breeding as revealed by hybrid sequencing Archives Animal Breeding
- Kao, Tzu-Tong et al. (2019) Low-copy nuclear sequence data confirm complex patterns of farina evolution in notholaenid ferns (Pteridaceae). Molecular phylogenetics and evolution
- 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
- Hoff, Siv Nam Khang et al. (2019) Long-read sequence capture of the haemoglobin gene clusters across codfish species. Molecular ecology resources
- 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
- O'Brien, Sofie A et al. (2018) Single copy transgene integration in a transcriptionally active site for recombinant protein synthesis. Biotechnology journal
- Castellanos, Mildred et al. (2018) A Borrelia burgdorferi mini-vls system that undergoes antigenic switching in mice: investigation of the role of plasmid topology and the long inverted repeat. Molecular microbiology
- Bull, Simon E et al. (2018) Accelerated ex situ breeding of GBSS- and PTST1-edited cassava for modified starch. Science advances
- 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
- Kosicki, Michael et al. (2018) Repair of double-strand breaks induced by CRISPR-Cas9 leads to large deletions and complex rearrangements. Nature biotechnology
- 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
- Verhey, Theodore B et al. (2018) Antigenic variation in the lyme spirochete: Insights into recombinational switching with a suggested role for error-prone repair. Cell reports
- 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
- 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
- Poster: McLaughlin, I., et al. (2017) Targeted sequencing using a long-read sequencing technology
- Poster: Clark, Tyson A. et al. (2017) Targeted enrichment without amplification and SMRT Sequencing of repeat-expansion disease causative genomic regions
- Poster: Ekholm, J. et al. (2017) Screening for causative structural variants in neurological disorders using long-read sequencing
- Poster: Baybayan, P. et al. (2017) Detection of low-frequency somatic variants using Single-Molecule, Real-Time Sequencing
- Poster: Kujawa, Steve et al. (2017) A method for the identification of variants in Alzheimer’s disease candidate genes and transcripts using hybridization capture combined with long-read sequencing
- Poster: Ekholm, Jenny et al. (2017) Screening and characterization of causative structural variants for bipolar disorder in a significantly linked chromosomal region onXq24-q27 in an extended pedigree from a genetic isolate
- Poster: Clark, T. A. et al. (2017) Targeted SMRT Sequencing of difficult regions of the genome using a Cas9, non-amplification based method
- 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
- Browne, Dan (2021) PacBio Data Deep Dive: A Closer Look at HiFi Sequencing
- Wang, Bo (2021) PagBio Day: Comparative Genomic Analysis in Sorghum Highlights the Extent of Structural Variations and Sugarcane Aphid Resistance Genes
- Young, Greg (2020) DNA and Sample Preparation for PacBio HiFi Sequencing – Best Practices and FAQ
- 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
- Korlach, Jonas and Graves-Lindsay, Tina and Vierra, Michelle (2020) PacBio Workshop: Understanding the biology of genomes with HiFi sequencing
- Ellis, Ethan (2019) User Group Meeting: Targeted PacBio Sequencing using Sage HLS-CATCH
- (2019) Video: Explore the PacBio No-Amp targeted sequencing application
- 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
- McFarland, Karen (2017) ASHG PacBio Workshop: Expansion sequence variations underlie distinct disease phenotypes in SCA10
- 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
- Singh, Siddharth (2017) Webinar: Beginner’s guide to PacBio SMRT Sequencing data analysis
- Turner, Stephen (2017) Webinar: An introduction to PacBio’s long-read sequencing & how it has been used to make important scientific discoveries
- Application Brochure: What can you do with one SMRT Cell? (2021)
- Core Lab Brochure: The most trusted long-read technology (2021)
- Application Brochure: Gene editing validation with HiFi reads (2021)
- SMRT Sequencing Brochure: Delivering highly accurate long reads to drive discovery in life science (2020)
- Application Brief: No-Amp targeted sequencing – Best Practices (2020)
- Product Brochure: Sequel IIe System – Sequencing evolved (2020)
- Application Brochure: HiFi reads for highly accurate long-read sequencing (2020)
- Technical Note: Preparing DNA for PacBio HiFi sequencing – Extraction and quality control (2020)
- PacBio Certified Service Providers (2020)
- Case Study: Diving Deep – Revealing the mysteries of marine life with SMRT Sequencing (2019)
- Application Brief: Targeted sequencing for amplicons – Best Practices (2019)
- Sequel II System Brochure: Delivering highly accurate long reads (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)