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 |
 | Variant Detection Comprehensively detect all variants in the human genome |
 | 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 |
Selected Resources
- Hsieh, PingHsun et al. (2019) Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes Science
- Pike, Alexandra M et al. (2019) TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity. Molecular and cellular biology
- Mitsuhashi, Satomi et al. (2019) Long-read sequencing for rare human genetic diseases. Journal of human genetics
- Meyer, Kate D et al. (2019) DART-seq: an antibody-free method for global m6A detection. Nature methods
- Wenger, Aaron M et al. (2019) Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nature biotechnology
- Manek, Rachna et al. (2019) 5’UTR-mediated regulation of Ataxin-1 expression. Neurobiology of disease
- Watson, Corey T et al. (2019) A comparison of immunoglobulin IGHV, IGHD and IGHJ genes in wild-derived and classical inbred mouse strains. Immunology and cell biology
- 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
- Eichler, Evan E et al. (2019) Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. The New England journal of medicine
- Wan, Ying et al. (2019) Systematic identification of intergenic long-noncoding RNAs in mouse retinas using full-length isoform sequencing. BMC genomics
- Zook, Justin M. et al. (2019) A robust benchmark for germline structural variant detection BioRxiv
- Sheynkman, Gloria M. et al. (2019) ORF Capture-Seq: a versatile method for targeted identification of full-length isoforms BioRxiv
- Pei, Weike et al. (2019) Using Cre-recombinase-driven Polylox barcoding for in vivo fate mapping in mice. Nature protocols
- Vollger, Mitchell R. et al. (2019) Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads BioRxiv
- Mantere, Tuomo et al. (2019) Long-Read Sequencing Emerging in Medical Genetics Frontiers in genetics
- Yang, Xiaofei et al. (2019) One reference genome is not enough Genome biology
- Dainis, Alexandra et al. (2019) Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3. Circulation. Genomic and precision medicine
- Kronenberg, Zev N. et al. (2019) Extended haplotype phasing of de novo genome assemblies with FALCON-Phase BioRxiv
- Jing, Ying et al. (2019) Hybrid sequencing-based personal full-length transcriptomic analysis implicates proteostatic stress in metastatic ovarian cancer. Oncogene
- Chaisson, Mark J P et al. (2019) Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature communications
- Sayed, Mohammed E et al. (2019) NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells. Oncogene
- Iyer, Sukanya et al. (2019) Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. Nature
- Lian, Bi et al. (2019) Unveiling novel targets of paclitaxel resistance by single molecule long-read RNA sequencing in breast cancer. Scientific reports
- 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
- Mizuguchi, Takeshi et al. (2019) 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
- 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
- Deslattes Mays, Anne et al. (2019) Single-Molecule Real-Time (SMRT) Full-Length RNA-Sequencing Reveals Novel and Distinct mRNA Isoforms in Human Bone Marrow Cell Subpopulations. Genes
- 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
- Ameur, Adam et al. (2019) Single-Molecule Sequencing: Towards Clinical Applications. Trends in biotechnology
- Bruijnesteijn, Jesse et al. (2018) Extensive alternative splicing of KIR transcripts. Frontiers in immunology
- Poster: Wenger, A.M. et al. (2019) Comprehensive structural and copy-number variant detection with long reads
- Poster: Rowell, W. J. et al. (2019) Detection and phasing of small variants in Genome in a Bottle samples with highly accurate long reads
- Poster: Tseng, E. et al. (2019) Full-Length RNA-seq of Alzheimer brain on the PacBio Sequel II System
- Poster: Kronenberg, Z. N. et al. (2019) High-quality human genomes achieved through HiFi sequence data and FALCON-Unzip assembly
- Poster: Ekholm, J. M. et al. (2019) Structural variant in the RNA Binding Motif Protein, X-Linked 2 (RBMX2) gene found to be linked to bipolar disorder
- 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: Rowell, W. J. et al. (2019) Comprehensive variant detection in a human genome with highly accurate long reads
- 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
- Sheynkman, Gloria, and Tseng, Elizabeth (2019) Webinar: Discover full-length RNA sequencing – No assembly required
- Levy, Shawn (2019) ASHG PacBio Workshop: Long-read sequencing in oncology and population research: Perspectives and opportunities
- Hatas, Emily (2019) ASHG PacBio Workshop: Sequence with confidence – A new era of highly accurate long-read sequencing
- Cegarra, Ana Conesa (2019) User Group Meeting: From long reads to transcript function: Bioinformatics tools for Iso-transcriptomics analysis
- Pike, Alexandra (2019) User Group Meeting: Multiple expressed isoforms of TIN2 stimulate human telomerase
- Korlach, Jonas (2019) User Group Meeting: Sequencing chemistry & application updates
- Ellis, Ethan (2019) User Group Meeting: Targeted PacBio Sequencing using Sage HLS-CATCH
- Ekholm, Jenny and Kotturi, Paul (2019) Webinar: Beyond Gene Editing: How CRISPR/Cas9 enables sequencing of difficult regions of the genome
- Kingan, Sarah and Carroll, Andrew (2019) Webinar: Variant calling and de novo genome assembly with PacBio HiFi reads
- Korlach, Jonas and Garimella, Kiran and Tallon, Luke and McCarthy, Shane (2019) Webinar: Sequence with Confidence – Introducing the Sequel II System
- 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
- Application Brief: Structural variant detection using whole genome sequencing – Best Practices (2020)
- Application Brief: Whole genome sequencing for de novo assembly – Best Practices (2019)
- SMRT Sequencing Brochure: Delivering highly accurate long reads to drive discovery in life science (2019)
- Application Brief: Variant detection using whole genome sequencing with HiFi reads – Best Practices (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)
- Application Brief: Long-read RNA sequencing – Best Practices (2019)
- PacBio Certified Service Providers (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)
- SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data (2018)
- Infographic: Identify the cause of unsolved genetic disease with long-read 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)