Uncover the potential of any genome
Generate exceptional de novo assemblies and uncover the most complete view of genomic variation.
Our whole genome sequencing analysis solutions allow you to choose between easy to use push-button applications or flexible command line tools to generate gold-standard reference genomes, phase haplotypes and call all variant types. Explore the whole genome sequencing application and workflows.
De Novo Assembly
Generate long-read de novo assemblies with megabase-size contig N50s, consensus accuracies >99%, and reliably phase haplotypes.
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Variant Detection
Explore the power of the highly accurate long reads (HiFi reads, >99% single-molecule read accuracy) to discover small variants and phase haplotypes utilizing industry standard analysis tools.
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Structural Variant Detection
Call the broadest range of structural variant types using whole genome sequencing with high precision and recall.
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Selected Resources
- 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
- Tørresen, Ole K et al. (2019) Tandem repeats lead to sequence assembly errors and impose multi-level challenges for genome and protein databases. Nucleic acids research
- Wenger, Aaron M et al. (2019) Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nature biotechnology
- Jaworski, Coline C et al. (2019) Chromosome-level hybrid de novo genome assemblies as an attainable option for non-model organisms BioRxiv
- Zook, Justin M. et al. (2019) A robust benchmark for germline structural variant detection BioRxiv
- Breitwieser, Florian P et al. (2019) Human contamination in bacterial genomes has created thousands of spurious proteins. Genome research
- Kronenberg, Zev N. et al. (2019) Extended haplotype phasing of de novo genome assemblies with FALCON-Phase BioRxiv
- Audano, Peter A et al. (2019) Characterizing the major structural variant alleles of the human genome. Cell
- Ruan, Jue et al. (2019) Fast and accurate long-read assembly with wtdbg2 BioRxiv
- Hoff, Siv Nam Khang et al. (2019) Long-read sequence capture of the haemoglobin gene clusters across codfish species. Molecular ecology resources
- Koren, Sergey et al. (2018) De novo assembly of haplotype-resolved genomes with trio binning. Nature biotechnology
- Pollard, Martin O et al. (2018) Long reads: their purpose and place. Human molecular genetics
- 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
- Sedlazeck, Fritz J et al. (2018) Accurate detection of complex structural variations using single-molecule sequencing. Nature methods
- Sedlazeck, Fritz J et al. (2018) Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nature reviews. Genetics
- Zimin, Aleksey V et al. (2017) The first near-complete assembly of the hexaploid bread wheat genome, Triticum aestivum. GigaScience
- Merker, Jason D et al. (2017) Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genetics in medicine
- Koren, Sergey et al. (2017) Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation. Genome research
- Huddleston, John et al. (2017) Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome research
- Khost, Daniel E et al. (2017) Single-molecule sequencing resolves the detailed structure of complex satellite DNA loci in Drosophila melanogaster. Genome research
- Diaz, Maureen H et al. (2017) Comprehensive bioinformatics analysis of Mycoplasma pneumoniae genomes to investigate underlying population structure and type-specific determinants. PloS one
- Chin, Chen-Shan et al. (2016) Phased diploid genome assembly with single-molecule real-time sequencing. Nature methods
- Berlin, Konstantin et al. (2015) Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. Nature biotechnology
- Chin, Chen-Shan et al. (2013) Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nature methods
- 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: Sovic, Ivan et al. (2020) Improving long-read assembly of microbial genomes and plasmids
- 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: Galvin, Brendan et al. (2020) A high-quality PacBio insect genome from 5 ng of input DNA
- Poster: Kingan, Sarah B. et al. (2020) Beyond Contiguity: Evaluating the accuracy of de novo genome assemblies
- Poster: Kingan, Sarah B. et al. (2020) Every species can be a model: Reference-quality PacBio genomes from single insects
- 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: 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: Rowell, W. J. et al. (2019) Comprehensive variant detection in a human genome with highly accurate long reads
- Poster: Vierra, M. et al. (2019) Structural variant detection in crops using low-fold coverage long-read sequencing
- Poster: Wenger, Aaron et al. (2019) Structural variant detection with long read sequencing reveals driver and passenger mutations in a melanoma cell line
- Poster: Duncan, Turner et al. (2019) A low DNA input protocol for high-quality PacBio de novo genome assemblies
- 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: Baybayan, Primo et al. (2019) A high-quality de novo genome assembly from a single mosquito using PacBio sequencing
- Poster: Kingan, Sarah B. et al. (2019) A low DNA input protocol for high-quality PacBio de novo genome assemblies from single invertebrate individuals
- 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: 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: Wong, J. et al. (2018) Single chromosomal genome assemblies on the Sequel System with Circulomics high molecular weight DNA extraction for microbes
- Poster: Vogelsang, R. et al. (2018) Population-scale discovery of structural variants with PacBio SMRT Sequencing
- Poster: Blethrow, J. Sisneros, N. et al. (2018) Best practices for whole genome sequencing using the Sequel System
- Poster: Korlach, Jonas et al. (2018) High-quality de novo genome assembly and intra-individual mitochondrial instability in the critically endangered kakapo
- Poster: Heiner, Cheryl et al. (2018) Multiplexed complete microbial genomes on the Sequel System
- Poster: Vierra, Michelle et al. (2018) Characterizing the pan-genome of maize with PacBio SMRT Sequencing
- Poster: Concepion, C., et al. (2018) De novo assembly and preliminary annotation of the Schizocardium californicum genome
- Poster: Concepcion, G., et al. (2018) Structural variant detection in crops using PacBio SMRT Sequencing
- Poster: Wenger, A., et al. (2017) Detecting pathogenic structural variants with long-read PacBio SMRT Sequencing
- Poster: Kingan, S. et al. (2017) Structural variant detection with low-coverage PacBio sequencing
- Poster: Lambert, C. et al. (2017) Multiplexing strategies for microbial whole genome sequencing using the Sequel System
- Balacco, Jennifer (2020) Virtual Global Summit: Adventures towards error-free genomes
- Lawniczak, Mara (2020) Virtual Global Summit: Anopheles and the journey from a reference genome to a thousand genomes to spatiotemporal genomic observatories
- Chang, Pi-Chuan (2020) Virtual Global Summit: DeepVariant – Accurate variant calling with PacBio HiFi data
- Carbonell, Pablo (2020) Virtual Global Summit: Elucidating the origin of grapevine agronomic traits with PacBio genome assembly and Iso-Seq analysis
- Schmutz, Jeremy (2020) Virtual Global Summit: HiFi – Amazing Applications in Plant Genomes and Human Disease Research
- Chong, Tang (2020) Virtual Global Summit: HIT-scISOseq – High-throughput and high-accuracy single-cell full-length isoform sequencing
- Levy, Shawn (2020) Virtual Global Summit: Reliable nucleotide, indel, and structural variant detection in diverse populations
- Newell, Nicole (2020) Virtual Global Summit: Technical Tutorial – Choosing the best library prep for HiFi sequencing
- Eichler, Evan (2020) Virtual Global Summit: Telomere-to-telomere sequencing and evolution of complex regions of the human genome
- Miller, Neil (2020) Virtual Global Summit: Third generation sequencing for diagnosis of rare disease
- Hernandez, Alvaro (2020) Virtual Global Summit: Using the unique capabilities of the Sequel II System for de novo genome assembly and full-length 16S sequencing
- Sovic, Ivan and Kronenberg, Zev and Dunn, Christopher and Drake, James and Wong, Joan and Weber, Kristina L. and Browne, Dan and Ashby, Meredith (2020) Video Poster: Improving long-read assembly of microbial genomes and plasmids
- Wenger, Aaron and Tseng, Elizabeth (2020) ASHG CoLab: PacBio HiFi reads for comprehensive characterization of genomes and single-cell isoform expression
- Farrow, Emily (2020) ASHG PacBio Workshop: Applications of third generation sequencing in unsolved disease
- Korlach, Jonas (2020) ASHG PacBio Workshop: Latest product and application updates
- Rowell, William J. and Wenger, Aaron M. and Baid, Gunjan and Nattestad, Maria and Carroll, Andrew and Chang, Pi-Chuan (2020) Video Poster: Accurate, comprehensive variant calling in difficult-to-map genes using HiFi reads
- Chakraborty, Shreyasee and Eng, Kevin and Warner, Sarah and Lee, Walter and Madamba, Nicole and Obermoeller, Dawn and Wenger, Aaron and Weiand, Michael and Larrea, Andres and Baybayan, Primo (2020) Video Poster: High-throughput HiFi library workflow for human whole genome sequencing on the Sequel II System
- (2020) Video: HiFi Sequencing – Unlock your next great discovery
- Weissensteiner, Matthias and Fengler, Kevin and Mars, Kristin (2020) Webinar: Beyond a single reference genome – The advantages of sequencing multiple individuals
- 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
- Geib, Scott and Laumer, Christopher and Uliano da Silva, Marcela and Vierra, Michelle (2020) Webinar: No Organism Too Small – Build high-quality genome assemblies of small organisms with HiFi sequencing
- Ameur, Adam (2020) Webinar: SMRT Sequencing applications for human genomics and medicine
- Sund, Kristen and Wenger, Aaron (2020) Webinar: Increasing solve rates for rare and Mendelian diseases with long-read sequencing
- Rowell, William (2020) SMRT Leiden: Calling all variants with HiFi reads
- Sovic, Ivan (2020) SMRT Leiden: Improved phased assembly using HiFi data
- Uliano da Silva, Marcela (2020) SMRT Leiden: The impact of polishing on Darwin Tree of Life chromosome-level lepidopteran genome assemblies built with PacBio HiFi and Illumina Hi-C reads
- Jarvis, Erich (2020) SMRT Leiden: The Vertebrate genomes project: Sequencing life for a new biology
- Datema, Erwin (2020) SMRT Leiden: Ultra-fast comparative genomics of complex genomes at population scale
- Korlach, Jonas and Graves-Lindsay, Tina and Vierra, Michelle (2020) PacBio Workshop: Understanding the biology of genomes with HiFi sequencing
- Gharbi, Karim (2020) Customer Experience: Advancing UK genomics research with the PacBio Sequel II System
- Schmutz, Jeremy and Conesa, Ana and Gharbi, Karim and Kuo, Richard (2020) Customer Experience: HiFi reads help scientists explore genomes and transcriptomes
- Schmutz, Jeremy (2020) Customer Experience: PacBio HiFi reads improve genome sequencing at HudsonAlpha
- Korlach, Jonas (2020) Webinar: Long HiFi reads for high-quality genome assemblies
- Weber, Kay (2020) Webinar: Bioinformatics lunch & learn – HiFi assembly
- SMRT Sequencing Brochure: Delivering highly accurate long reads to drive discovery in life science (2020)
- Core Lab Brochure: The most trusted long-read technology (2020)
- Application Brochure: What can you do with one SMRT Cell? (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: Looking beyond the single reference genome to a pangenome for every species (2020)
- Infographic: A Genome Fit for a Giant – Sequencing the California redwood (2020)
- Application Brief: Microbial whole genome sequencing – Best Practices (2020)
- Application Brief: Structural variant detection using whole genome sequencing – Best Practices (2020)
- PacBio Certified Service Providers (2020)
- Application Brief: Whole genome sequencing for de novo assembly – Best Practices (2019)
- Case Study: Diving Deep – Revealing the mysteries of marine life with SMRT Sequencing (2019)
- Application Brief: Variant detection using whole genome sequencing with HiFi reads – Best Practices (2019)
- Application Brief: Targeted sequencing for amplicons – Best Practices (2019)
- Case Study: Sequencing an historic bacterial collection for the future (2019)
- Infographic: A brief history of microbiology (2019)
- Sequel II System Brochure: Delivering highly accurate long reads (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- Application Note: Microbial multiplexing workflow on the Sequel System (2019)
- Infographic: Gold-standard reference genomes accelerate science (2018)
- Infographic: Identify the cause of unsolved genetic disease with long-read sequencing (2018)
- Technical Note: Preparing samples for PacBio whole genome sequencing for de novo assembly – Collection and storage (2018)
- Case Study: Pioneering a pan-genome reference collection (2018)