Discover genomic variations in regions of high interest
Zoom in on genes or regions and detect all variant types including rare SNPs, indels, structural variants
Single Molecule, Real-Time (SMRT) Sequencing enables you to detect all variant types such as structural variants, rare SNPs, indels, copy number variation, microsatellites, haplotypes, and phased alleles while sequencing through low complexity regions like repeat expansions, promoters, and flanking regions of transposable elements. Explore the targeted sequencing applications and workflows.
Targeted Sequencing
Utilize highly accurate long reads (HiFi reads, >99% single-molecule read accuracy) to sequence targets ranging in size from several hundred base pairs to 20 kb. Choose between push-button solutions in SMRT Analysis or flexible command-line tools utilizing industry standard workflows.
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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
- Callahan, Benjamin J et al. (2019) High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution. Nucleic acids research
- 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
- Pei, Weike et al. (2019) Using Cre-recombinase-driven Polylox barcoding for in vivo fate mapping in mice. Nature protocols
- Zhang, Peng et al. (2019) Full-Length Multi-Barcoding: DNA Barcoding from Single Ingredient to Complex Mixtures. Genes
- Jamy, Mahwash et al. (2019) Long metabarcoding of the eukaryotic rDNA operon to phylogenetically and taxonomically resolve environmental diversity BioRxiv
- 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
- Ameur, Adam et al. (2019) Single-Molecule Sequencing: Towards Clinical Applications. Trends in biotechnology
- Eren, Kemal et al. (2018) Full-Length Envelope Analyzer (FLEA): A tool for longitudinal analysis of viral amplicons. PLoS computational biology
- 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
- Beaulaurier, John et al. (2018) Metagenomic binning and association of plasmids with bacterial host genomes using DNA methylation. Nature biotechnology
- 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
- Wang, Dan et al. (2018) Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice. Nature biotechnology
- 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
- Breaux, Breanna et al. (2018) The Florida manatee (Trichechus manatus latirostris) T cell receptor loci exhibit V subgroup synteny and chain-specific evolution. Developmental and comparative immunology
- 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
- Tseng, Elizabeth (2021) PacBio SMRT Link SARS-CoV-2 Workflow Overview
- 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
- Blethrow, Justin and Smith, Melissa L. and Vinnere Pettersson, Olga (2021) Webinar: Unleashing the Power of HiFi Sequencing – How the Sequel IIe System Removes Barriers and Empowers Life Scientists
- Becker, Aaron and Ekholm, Jenny and Harris, Charlotte and Kingham, Brewster and Vinnere Pettersson, Olga (2021) SMRT Sequencing as a Service – How to Bring Long-Read Technology to Your Core Lab
- Korlach, Jonas (2021) AGBT Presentation: Increasing the Solve Rate of Rare and Undiagnosed Genetic Diseases with HiFi Sequencing
- Wang, Bo (2021) PagBio Day: Comparative Genomic Analysis in Sorghum Highlights the Extent of Structural Variations and Sugarcane Aphid Resistance Genes
- Vierra, Michelle and Lewin, Haris (2021) PagBio Day: New Discoveries in Plant and Animal Sciences
- Tassone, Flora (2020) Altered Alternative Splicing Process in FMR1 Premutation Carriers
- 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
- (2020) Application Tutorial: Introduction to Variant Detection with HiFi Reads
- (2020) Introduction to highly accurate long-read sequencing (HiFi Sequencing)
- 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
- Korlach, Jonas (2020) ASHG PacBio Workshop: Latest product and application updates
- (2020) Video Poster: Long-read amplicon sequencing to understand spinal muscular atrophy (SMA)
- Tseng, Elizabeth and Wilson, Joan and Hon, Ting and Eng, Kevin and Lambert, Christine and Chakraborty, Shreyasee and Zhu, Lei and Toepfer, Armin and Xiang, Wenwen and Harting, John and Li, Qiang and Underwood, Jason G. and Baybayan, Primo and Ashby, Meredith and Bostick, Maggie and Farmer, Andrew (2020) Video Poster: Long-read sequencing of the SARS-CoV-2 genome and the human immune repertoire
- (2020) Video: HiFi Sequencing – Unlock your next great discovery
- Guarco, Carmen and Hernandez, Álvaro G. (2020) Spanish Language Webinar: Introducción a la secuenciación larga y precisa con PacBio
- Wenger, Aaron (2020) Educational Video: Variant Detection with HiFi Reads – Understanding Results from the precisionFDA Truth Challenge
- 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
- 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)