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: 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
- 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: Kingan, Sarah et al. (2017) A high-quality genome assembly of SMRT sequences reveals long range haplotype structure in the diploid mosquito Aedes aegypti
- 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
- Mars, Kristin and Laird Smith, Melissa and Vinnere Pettersson, Olga and Hardigan, Michael (2020) Webinar: Sequencing 101 – How long-read sequencing improves access to genetic information
- Oppert, Brenda (2020) AGBT Presentation: Feed the World – Developing genomic resources for insects as food
- Graves-Lindsay, Tina (2020) AGBT Presentation: Generating high quality human reference assemblies with PacBio sequencing
- Ameur, Adam (2020) AGBT Presentation: Studying CRISPR guide RNA specificity by amplification-free long-read sequencing
- (2020) Video: Introduction to PacBio highly accurate long-read sequencing
- Blaxter, Mark (2020) PAG Conference: Endless forms: Genomes from the Darwin Tree of Life Project
- Vierra, Michelle (2020) PAG Conference: PacBio update on products and HiFi applications
- Nijland, Bart (2020) PAG Conference: The impact of highly accurate PacBio sequence data on the assembly of a tetraploid rose
- Korlach, Jonas (2020) PAG Conference: Workshop introduction
- Browne, Dan (2019) Webinar: Bioinformatics lunch & learn – Better assemblies of bacterial genomes and plasmids with the new microbial assembly pipeline in SMRT Link v8.0
- Matsumoto, Naomichi (2019) ASHG PacBio Workshop: Long-read sequencing for disease genome analysis: Our experiences
- 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
- Bernberg, Erin (2019) User Group Meeting: Getting a read on one little worm with PacBio’s low DNA input workflow and the Agilent Femto Pulse System
- Vollger, Mitchell (2019) User Group Meeting: Improved assembly of segmental duplications using HiFi
- Korlach, Jonas (2019) User Group Meeting: Lowering input requirements
- Korlach, Jonas (2019) User Group Meeting: Sequencing chemistry & application updates
- Ashby, Meredith (2019) User Group Meeting: Unbiased characterization of metagenome composition and function using HiFi sequencing on the PacBio Sequel II System
- Bernberg, Erin and Hotaling, Scott and Vierra, Michelle (2019) Webinar: Small Bodies, Big Genomes: Overcoming Large DNA Input Requirements for Long-Read Genome Assembly
- Kingan, Sarah and Carroll, Andrew (2019) Webinar: Variant calling and de novo genome assembly with PacBio HiFi reads
- Kingan, Sarah and McKernan, Kevin (2019) Webinar: Smoking out structural variants in the cannabis genome
- Korlach, Jonas and Garimella, Kiran and Tallon, Luke and McCarthy, Shane (2019) Webinar: Sequence with Confidence – Introducing the Sequel II System
- Ashby, Meredith (2019) Webinar: Long-read sequencing and infectious disease: New insights into longstanding challenges
- Auch, Ben, and Sheik, Cody and van Bakel, Harm (2019) Webinar: Complete genomes within reach – Closing bacterial genomes from the lakes of Minnesota to NYC hospitals
- Badgett, Marty (2019) AGBT Presentation: The Sequel II System – The next evolution of SMRT Sequencing
- Fengler, Kevin (2019) PAG Conference: Dawn of the crop pangenome era
- Blethrow, Justin (2019) PAG Conference: How SMRT Sequencing is accelerating plant and animal genomics
- Clark, Andrew (2019) PAG Conference: Reference-quality drosophila genome assemblies for evolutionary analysis of previously inaccessible genomic regions
- Vernes, Sonia (2019) PAG Conference: The Bat1K project: bat genome, biology and implications
- Application Brochure: HiFi reads for highly accurate long-read sequencing (2020)
- Infographic: A Genome Fit for a Giant – Sequencing the California redwood (2020)
- Application Brochure: What can you do with one SMRT Cell? (2020)
- Application Brief: Microbial whole genome sequencing – Best Practices (2020)
- Application Brief: Structural variant detection using whole genome sequencing – Best Practices (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)
- 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: 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)
- PacBio Certified Service Providers (2019)
- Sequel II System Brochure: Delivering highly accurate long reads (2019)
- Application Note: Low DNA input workflow considerations for de novo genome assembly (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- Product Note: SMRTbell express template prep 2.0 for microbial multiplexing (2019)
- Application Note: Microbial multiplexing workflow on the Sequel System (2019)
- Product Note: Fast, high-resolution DNA sizing with the Agilent Femto Pulse system (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: Gold-standard reference genomes accelerate science (2018)
- De Novo Assembly Brochure: Assembly options for your SMRT Sequencing data (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)