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
- 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
- Callahan, Benjamin J et al. (2019) High-throughput amplicon sequencing of the full-length 16S rRNA gene with single-nucleotide resolution. Nucleic acids research
- 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
- 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
- Grech-Baran, Marta et al. (2018) Extreme resistance to Potato Virus Y in potato carrying the Rysto gene is mediated by a TIR-NLR immune receptor BioRxiv
- 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
- 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
- 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
- Levy, Shawn (2019) ASHG PacBio Workshop: Long-read sequencing in oncology and population research: Perspectives and opportunities
- Korlach, Jonas (2019) User Group Meeting: Sequencing chemistry & application updates
- 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
- Korlach, Jonas and Corney, Dave (2018) Webinar: A new paradigm in DNA sequencing – Highly accurate single-molecule long reads
- 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
- Hatas, Emily (2017) Webinar: SMRT Sequencing applications in plant and animal sciences: an overview
- 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
- Cereb, Nezih (2017) AGBT PacBio Workshop: High-throughput HLA class I whole gene and HLA class II long range typing on PacBio RSII and Sequel Platforms
- 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: Circular Consensus Sequence analysis application [SMRT Link v5.0.0]
- (2017) Tutorial: Long amplicon analysis application [SMRT Link v5.0.0]
- (2017) Tutorial: SMRT Analysis overview and resequencing [SMRT Link v5.0.0]
- Wing, Rod (2017) PAG PacBio Workshop: Introducing 5 new high-quality PacBio genome assemblies for rice to help solve the 10-billion people question
- Korlach, Jonas (2017) PAG PacBio Workshop: SMRT Sequencing for complete genomes
- SMRT Sequencing Brochure: Delivering highly accurate long reads to drive discovery in life science (2019)
- Application Brief: No-Amp targeted sequencing – Best Practices (2019)
- Application Brochure: What can you do with one SMRT Cell? (2019)
- Application Brief: Targeted sequencing for amplicons – Best Practices (2019)
- PacBio Certified Service Providers (2019)
- Sequel II System Brochure: Delivering highly accurate long reads (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data (2018)
- Case Study: SMRT sequencing brings clarity to HIV vaccine and transplant research at the Wisconsin national primate research center (2017)