Are You Working on Coronavirus?
Explore our COVID-19 sequencing tools and resources
Sequence human genomes with confidence
Generate reference-quality assemblies of diverse populations and catalog common structural variants to expand the ethnic diversity of genomic resources.
Egyptian 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.
Phasing mutations to predict drug response | SVs in breast cancer cell lines | AR isoforms as prostate cancer biomarkers
Identify the genetic drivers of neurological, neuromuscular, and neurodegenerative disorders.
Cerebellum transcripts on a single-cell level | Epilepsy causing repeat | Somatic recombination in neurons | Pathogenic structural variants
Uncover the complexity of gene-dense immune loci to understand autoimmunity, immunodeficiency, transplant outcomes, and infectious disease susceptibility.
Full-length HLA Sequencing | Unbiased BCR profiling | Target capture for KIR haplotyping | Haplotyping the IGH locus
Discover the cause of unsolved genetic disease to increase solve rates and disease gene discovery
Understand rare disease | Neurodevelopmental disorders | Partnership with Genomic Answers for Kids | Pathogenic structural variants
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Whole Genome Sequencing Generate de novo genome assemblies of a population of interest |
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Variant Detection Comprehensively detect all variants in the human genome |
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Targeted Sequencing Focus on variation in even the most difficult regions of the genome, and explore our No-Amp method of targeted sequencing |
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RNA Sequencing Get a complete view of transcript isoform diversity – no assembly required, or try Single-Cell RNA Sequencing to resolve isoform diversity at the single-cell level |
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Somatic Variant Sequencing Detect and phase both structural variants and SNVs in heterogeneous tumor samples and resolve tumor-specific splice isoforms |
Selected Resources
- Ebert, Peter et al. (2021) Haplotype-resolved diverse human genomes and integrated analysis of structural variation Science
- Takeshi Mizuguchi et al. (2021) Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing Genomics
- Vollger, Mitchell R et al. (2019) Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. Annals of human genetics
- 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
- 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
- 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
- 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: Rowell, William J. et al. (2020) Comprehensive variant detection in a human genome with highly accurate long reads
- Poster: Rowell, William J. et al. (2020) A workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads
- Poster: Underwood, Jason et al. (2020) A complete solution for full-length transcript sequencing using the PacBio Sequel II System
- Poster: Tsai, Yu-Chih et al. (2020) Amplification-free protocol for targeted enrichment of repeat expansion genomic regions and SMRT Sequencing
- Poster: Wenger, Aaron M. et al. (2020) Copy-number variant detection with PacBio long reads
- Poster: Baybayan, Primo et al. (2020) New advances in SMRT Sequencing facilitate multiplexing for de novo and structural variant studies
- 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
- Hiatt, Susan and Korlach, Jonas (2021) Long-Read Genome Sequencing for the Molecular Understanding of Neurodevelopmental Disorders
- Tai, Phillip (2021) AAV-Genome Population Sequencing of Vectors Packaging CRISPR Components Reveals Design-Influenced Heterogeneity
- Joglekar, Anoushka (2021) A Spatially Resolved Brain Region and Cell Type-Specific Isoform Atlas of the Postnatal Mouse Brain
- Korlach, Jonas (2021) HiFi Sequencing for Understanding the Biology of Genomes
- 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
- Levy, Shawn and Heiner, Cheryl and Aro, Lori (2021) Transformative Drug Research and Development via Accurate and Scalable Long-Read Sequencing Services
- Aro, Lori and Scott, Stuart A and Yang, Yao (2021) Advancing Pharmacogenomics Research and the Need for Highly Accurate Long-Read 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
- Miller, Dave and Hernandez, Alvaro (2021) Creating Core Demand with HiFi Sequencing
- Wenger, Aaron (2021) Not All Long Reads Are Equal – High Accuracy Sets PacBio Apart
- Miller, David and Smith, Melissa Laird (2021) The Long and Short of Sequencing – Why HiFi Reads are the Future
- 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
- Tassone, Flora (2020) Altered Alternative Splicing Process in FMR1 Premutation Carriers
- Tome, Stephanie (2020) Improving the Prognosis and Genetic Counseling in DM1 Patients
- Schuele, Birgitt (2020) Long-read Sequencing and Optical Mapping of ATXN10 Repeat Expansion
- 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
- Holstege, Henne (2020) Uncovering Neurological Disorders Through an Examination of VNTRs
- Larrea, Andres and Tai, Phillip W. L. (2019) Webinar: Highly accurate SMRT Sequencing for gene editing applications
- (2020) Application Tutorial: Introduction to Full-Length RNA Sequencing with HiFi Reads
- (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)
- Chang, Pi-Chuan (2020) Virtual Global Summit: DeepVariant – Accurate variant calling with PacBio HiFi data
- Schmutz, Jeremy (2020) Virtual Global Summit: HiFi – Amazing Applications in Plant Genomes and Human Disease Research
- Application Brochure: What can you do with one SMRT Cell? (2021)
- Publication at a Glance: The complete sequence of a human genome (2021)
- Informational Guide: Whole genome sequencing for understanding rare diseases (2021)
- Application Brief: Variant detection using whole genome sequencing with HiFi reads – Best Practices (2021)
- Application Brief: Whole genome sequencing for de novo assembly – Best Practices (2021)
- Application Brochure: Scalable human whole genome HiFi sequencing for rare and inherited disease research (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)
- Application Brief: Single-cell RNA sequencing with HiFi reads – Best Practices (2020)
- Product Brochure: Sequel IIe System – Sequencing evolved (2020)
- Informational Guide: Understanding accuracy in DNA sequencing (2020)
- Application Note: Considerations for using the low and ultra-low DNA input workflows for whole genome sequencing (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)
- Informational Guide: What’s the value of sequencing full-length RNA transcripts? (2020)
- Informational Guide: Looking beyond the single reference genome to a pangenome for every species (2020)
- PacBio Certified Service Providers (2020)
- Application Brief: Targeted sequencing for amplicons – Best Practices (2019)
- Application Brief: Long-read RNA sequencing – Best Practices (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- 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)