Sequence human genomes with confidence
Gain complete views of human genetic diversity with PacBio long-read sequencing
Generate reference-quality assemblies of diverse populations and catalog common structural variants to expand the ethnic diversity of genomic resources.
Swedish genomes | Reference genomes for global populations | Ethnic diversity | Database of common SVs
Understand how we can improve early identification, treatment options, and patient outcomes by better characterizing all the variant types in cancer genomes.
SVs in breast cancer cell lines | AR isoforms as prostate cancer biomarkers
Identify the genetic drivers of neurological, neuromuscular, and neurodegenerative disorders.
Epilepsy causing repeat | Somatic recombination in neurons | Pathogenic structural variants
Uncover the full complexity of gene-dense immune loci to understand autoimmunity, immunodeficiency, transplantation outcomes, and infectious disease susceptibility.
Full-length HLA Sequencing | KIR2DL1 allele | Multiplexing for clinically relevant targets
Rare and Mendelian Disease
Discover the cause of unsolved genetic disease to increase solve-rates and disease gene discovery
Solve more genetic diseases | Pathogenic structural variants | Rare disease
 | Whole Genome Sequencing Generate de novo genome assemblies of a population of interest |
 | Structural Variant Calling Comprehensively detect common and rare structural variants |
 | Targeted Sequencing Focus on variation in even the most difficult regions of the genome, and explore our No-Amp method of targeted sequencing |
 | RNA Sequencing Get a complete view of transcript isoform diversity – no assembly required |
 | Somatic Variant Sequencing Detect and phase both structural variants and SNVs in heterogeneous tumor samples and resolve tumor-specific splice isoforms |
SMRT Grant Programs for Human Biomedical Research are Now Open!
Reveal the Full Landscape of Isoform Diversity
Tell us how PacBio RNA Sequencing using the Iso-Seq method will drive new discoveries in your research for a chance to win free SMRT Sequencing. Learn More
Target Regions of the Genome to Discover and Detect All Variant Types
Tell us how PacBio Targeted Sequencing of amplicons will advance your science for a chance to win free SMRT Sequencing. Learn More
Structural Variation Project Calculator
Tell us about your structural variation sequencing project and receive an estimate on the time and materials needed to perform it on the Sequel System. Learn more.
Selected Resources
- Mizuguchi, Takeshi et al. (2019) A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. Journal of human genetics
- 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
- Audano, Peter A et al. (2019) Characterizing the major structural variant alleles of the human genome. Cell
- Tseng, Elizabeth et al. (2019) The landscape of SNCA transcripts across synucleinopathies: New insights from long reads sequencing analysis bioRxiv
- Wenger, Aaron M et al. (2019) Highly-accurate long-read sequencing improves variant detection and assembly of a human genome bioRxiv
- Jing, Ying et al. (2019) Hybrid sequencing-based personal full-length transcriptomic analysis implicates proteostatic stress in metastatic ovarian cancer. Oncogene
- Mizuguchi, Takeshi et al. (2018) Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases Journal of Human Genetics
- Bruijnesteijn, Jesse et al. (2018) Extensive alternative splicing of KIR transcripts. Frontiers in immunology
- 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
- Sayed, Mohammed E et al. (2018) NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells. Oncogene
- Lee, Ming-Hsiang et al. (2018) Somatic APP gene recombination in Alzheimer’s disease and normal neurons. Nature
- 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
- Ameur, Adam et al. (2018) De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data. Genes
- Hughes, Timothy et al. (2018) Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder. Translational Psychiatry
- Kondratyev, Nikolay et al. (2018) Prediction of smoking by multiplex bisulfite PCR with long amplicons considering allele-specific effects on DNA methylation. Clinical epigenetics
- Gupta, Ishaan et al. (2018) Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells. Nature biotechnology
- Pike, Alexandra M et al. (2018) TIN2 functions with TPP1/POT1 to stimulate telomerase processivity BioRxiv
- Dougherty, Max L et al. (2018) Transcriptional fates of human-specific segmental duplications in brain. Genome research
- 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
- Kumari, Romika et al. (2018) PausePred and Rfeet: webtools for inferring ribosome pauses and visualizing footprint density from ribosome profiling data. RNA
- Atack, John M et al. (2018) Phasevarions of bacterial pathogens: Methylomics sheds new light on old enemies. Trends in microbiology
- Ameur, Adam et al. (2018) Single-molecule sequencing: Towards clinical applications Trends in biotechnology
- Prokopuk, Lexie et al. (2018) Loss of maternal EED results in postnatal overgrowth. Clinical epigenetics
- Gupta, Ishaan et al. (2018) Single-cell isoform RNA sequencing (ScISOr-Seq) across thousands of cells reveals isoforms of cerebellar cell types. BioRxiv
- Nattestad, Maria et al. (2018) Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome research
- Fungtammasan, Arkarachai et al. (2018) How well can we create phased, diploid, human genomes?: An assessment of FALCON-Unzip phasing using a human trio BioRxiv
- Tai, Phillip WL et al. (2018) Adeno-associated virus genome population sequencing achieves full vector genome resolution and reveals human-vector chimeras Molecular therapy
- Sedlazeck, Fritz J et al. (2018) Accurate detection of complex structural variations using single-molecule sequencing. Nature methods
- Kronenberg, Zev N et al. (2018) High-resolution comparative analysis of great ape genomes. Science
- Bultitude, W P et al. (2018) KIR2DL1 allele sequence extensions and discovery of 2DL1*0010102 and 2DL1*0010103 alleles by DNA sequencing. HLA
- Poster: Tseng, Elizabeth et al. (2019) Full-length transcriptome sequencing of melanoma cell line complements long-read assessment of genomic rearrangements
- Poster: Wenger, Aaron et al. (2019) Structural variant detection with long read sequencing reveals driver and passenger mutations in a melanoma cell line
- Poster: Ekholm, Jenny et al. (2019) Streamlines SMRTbell library generation using addition-only, single tube strategy for all library types reduces time to results
- Poster: Peluso, Paul et al. (2019) Single molecule high-fidelity (HiFi) Sequencing with >10 kb libraries
- Poster: Rowell, W. et al. (2018) Comprehensive variant detection in a human genome with PacBio high-fidelity reads
- Poster: Larrea, Andres et al. (2018) A simple segue from Sanger to high-throughput SMRT Sequencing with a M13 barcoding system
- Poster: Kingan, Sarah et al. (2018) FALCON-Phase integrates PacBio and HiC data for de novo assembly, scaffolding and phasing of a diploid Puerto Rican genome (HG00733)
- Poster: Audano, Peter A. et al. (2018) Improving the reference with a diversity panel of sequence-resolved structural variation
- Poster: Wenger, Aaron et al. (2018) Joint calling and PacBio SMRT Sequencing for indel and structural variant detection in populations
- 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: Vogelsang, R. et al. (2018) Population-scale discovery of structural variants with PacBio SMRT Sequencing
- Poster: Liqing, Tian et al. (2018) Allelic specificity of immunoglobulin heavy chain (IGH@) translocation in B-cell acute lymphoblastic leukemia (B-ALL) unveiled by long-read sequencing
- Poster: Ashby, M. et al. (2018) Scalability and reliability improvements to the Iso-Seq analysis pipeline enables higher throughput sequencing of full-length cancer transcripts
- Poster: Ho, Yeung et al. (2018) The role of androgen receptor variant AR-V9 in prostate cancer
- 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: Wenger, A., et al. (2017) Detecting pathogenic structural variants with long-read PacBio SMRT Sequencing
- 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: Kingan, S. et al. (2017) Structural variant detection with low-coverage PacBio sequencing
- Poster: Hickey, L. et al. (2017) Detecting pathogenic structural variants with low-coverage PacBio sequencing.
- 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: Ashby, M. et al. (2017) Simplified sequencing of full-length isoforms in cancer on the PacBio Sequel platform
- Poster: Clark, Tyson A. et al. (2017) SMRT Sequencing of full-length androgen receptor isoforms in prostate cancer reveals previously hidden drug resistant variants
- 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: Wenger, Aaron et al. (2017) Structural variant detection with low-coverage Pacbio sequencing
- Poster: Oh, Steve et al. (2017) T-cell receptor profiling using PacBio sequencing of SMARTer libraries
- Poster: Clark, T. A. et al. (2017) Targeted SMRT Sequencing of difficult regions of the genome using a Cas9, non-amplification based method
- Poster: Ashby, Meredith et al. (2017) Using the PacBio IsoSeq method to search for novel colorectal cancer biomarkers
- Poster: Hall, Richard et al. (2017) Using the PacBio Sequel System to taxonomically and functionally classify metagenomic samples in a trial of patients undergoing fecal microbiota transplantation
- Poster: Eng, K. et al. (2016) Target enrichment using a neurology panel for 12 barcoded genomic DNA samples on the PacBio SMRT Sequencing platform
- Hunkapiller, Michael (2019) AGBT Presentation: HiFi long reads for comprehensive genomic analysis
- Underwood, Jason (2019) AGBT Presentation: Single cell isoform sequencing (scIso-Seq) identifies novel full-length mRNAs and cell type-specific expression
- Badgett, Marty (2019) AGBT Presentation: The Sequel II System – the next evolution of SMRT Sequencing
- 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
- (2018) Tutorial: Iso-Seq analysis application [SMRT Link v6.0.0]
- (2018) Tutorial: Structural variant calling [SMRT Link v6.0.0]
- 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
- Korlach, Jonas (2018) ASHG PacBio Workshop: PacBio product updates and roadmap – announcing the release of new chemistry and software
- Tseng, Elizabeth (2018) ASHG PacBio Workshop: The Iso-Seq method for discovering alternative splicing in human diseases
- Korlach, Jonas and Lleras, Roberto (2018) User Group Meeting: Structural variant calling in SMRT Link 6.0
- Graves-Lindsay, Tina (2018) User Group Meeting: The trials and tribulations of high quality human genome assembly
- Pillai, Nisha (2018) Webinar: Assessing the targeted regions using a PacBio Amplicon analysis applications
- Pillai, Nisha (2018) Webinar: Survey of transcriptome diversity using Iso-Seq analysis
- Pillai, Nisha (2018) Webinar: A sketch of assembly recipes for PacBio data
- Ameur, A. and Graves-Lindsay, T. and Peluso, P. (2018) Webinar: Assembling high-quality human reference genomes for global populations
- Korlach, Jonas (2018) Podcast: Why the diversity of genomic data matters
- Sedlazeck, Fritz (2018) Webinar: Size Matters: Accurate detection and phasing of structural variations
- Hoischen, A. and Wenger, A (2018) Webinar: Sequencing structural variants for disease gene discovery and population genetics
- Wenger, Aaron (2017) Video: Structural variant detection with SMRT Sequencing
- Jacob, Howard (2017) Podcast: Huh? 30 million Americans have a rare disease? Howard Jacob on the state of clinical sequencing
- Brunner, Han (2017) ASHG PacBio Workshop: Long-read sequencing for detecting clinically relevant structural variation
- Lee, Charles (2017) ASHG PacBio Workshop: Multiplatform discovery of haplotype-resolved structural variation in human genome
- Korlach, Jonas (2017) ASHG PacBio Workshop: PacBio applications updates & future roadmap
- (2017) Video: Discover structural variation with long-read sequencing
- Wenger, Aaron (2017) Webinar: Detecting structural variants in PacBio reads – tools and applications
- Shendure, Jay (2017) Podcast: Exploring the exome and the future of genomics with Jay Shendure
- (2017) Tutorial: Minor variant analysis [SMRT Link v5.0.0]
- Ranade, Swati (2017) Webinar: A paradigm shift in HLA sequencing: from exons to high-resolution allele-level HLA yyping
- Wenger, Aaron (2017) Webinar: Structural variant detection in SMRT Link 5 with PBSV
- Kingan, Sarah (2017) Webinar: Understanding, curating, and analyzing your diploid genome assembly
- 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
- Ashby, Meredith (2017) Webinar: Chasing alternative splicing in cancer: Simplified full-length isoform sequencing
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- Product Note: SMRTbell express template prep 2.0 for large-insert libraries (2019)
- Product Note: Fast, high-resolution DNA sizing with the fragment analyzer system (2019)
- PacBio Certified Service Providers (2018)
- SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data (2018)
- Application Brief: Large genome whole genome sequencing – Best Practices (2018)
- Application Brief: Targeted sequencing for amplicons – Best Practices (2018)
- Application Brief: Long-read RNA sequencing – Best Practices (2018)
- SMRT Sequencing Brochure: Revolutionize genomics with SMRT Sequencing (2018)
- Application Brief: Low-coverage, long-read whole genome sequencing for structural variation – Best Practices (2018)
- Infographic: Identify the cause of unsolved genetic disease with long-read sequencing (2018)
- Application Brochure: No-Amp targeted sequencing (2018)
- Whitepaper: Structural variation in the human genome (2017)
- Infographic: Structural variants and disease (2017)
- Case Study: SMRT sequencing brings clarity to HIV vaccine and transplant research at the Wisconsin national primate research center (2017)
- Case Study: Improving precision medicine studies in Asia using ethnicity-specific human reference genomes and PacBio long-read sequencing (2017)
- Application Note: Multiplex target enrichment using barcoded multi-kilobase fragments and probe-based capture technologies (2016)
- Epigenetics Application Brochure: Characterize the epigenetic landscape of your genome (2016)
- Case Study: Scientists deconstruct cancer complexity through genome and transcriptome analysis (2016)