Human Long-Read
Sequencing with PacBio Revio
High-Quality, End-to-End Genomic Discovery from Sample to Insight
HudsonAlpha in Action: Scientific Leadership Across Genomics
Enhancing Rare Disease Diagnosis
In partnership with Greg Cooper, PhD, HudsonAlpha is applying PacBio sequencing to uncover genetic causes of unexplained neurodevelopmental diseases in children. This work, published (Hiatt et al., 2018 and 2024), recently received NIH funding to sequence 500 individuals, where short-read sequencing yielded no answers.
Defining Pediatric Cancer Susceptibility
As a NIH Gabriella Miller Kids First sequencing center, HudsonAlpha has contributed genomic data to national efforts on childhood cancers and birth defects. We used PacBio to sequence 40 trios at 30x coverage to uncover structural variation and hidden inheritance patterns.
Scaling Long-Read for Population Genomics
HudsonAlpha was awarded an NIH Other Transactions production award to explore long-read sequencing for population-scale clinical genomics. Over 18 months, we sequenced 1,247 participants with PacBio HiFi reads at an average of 12x coverage using the Revio platform.
Unlock the Full Potential of the Human Genome with Long-Read Technology
The HudsonAlpha Genome Sequencing Center, part of the HudsonAlpha Institute for Biotechnology, offers comprehensive human long-read genome sequencing using the advanced PacBio Revio platform. As a PacBio Certified Service Provider and trusted NIH collaborator, we provide full-service sequencing, from DNA extraction through advanced analysis, designed to uncover complex genomic variation with unmatched resolution.
Our Revio-based HiFi sequencing services are ideal for uncovering structural variants, repeat expansions, haplotypes, and other genomic elements missed by short-read platforms.
Whether your research focuses on rare disease, pediatric cancer, or population-scale genomics, HudsonAlpha delivers publication-ready data and scientific partnership.
Human PacBio Sequencing at the HudsonAlpha Genome Sequencing Center
The HudsonAlpha Genome Sequencing Center is a global leader in de novo whole genome sequencing and assembly, with an extensive track record sequencing both human and plant genomes, including soybean, poplar, switchgrass, peanut, sorghum, and pecan.
Why Choose HudsonAlpha for Human Long-Read Sequencing?
Proven Scientific Expertise
We're not just a sequencing provider; we're a research institute with a reputation for genomic innovation and collaboration with NIH, Pacific Biosciences, and clinical researchers.
Trusted by NIH and Certified by PacBio
HudsonAlpha is a PacBio Certified Service Provider and recipient of multiple NIH awards for long-read sequencing in rare disease, pediatric cancer, and population-scale genomics.
End-to-End Project Support
From high-molecular-weight DNA extraction to custom bioinformatics, our experienced genomic scientists manage every step of the sequencing pipeline in-house, ensuring quality and continuity.
Powered by PacBio Revio
Achieve HiFi reads up to 99.9% accuracy with long-read lengths that deliver precise variant detection, even in hard-to-sequence regions.
High-Quality Data, Every Time
We focus on delivering consistent, publication-ready datasets that are reproducible and robust. Our lab meets stringent quality benchmarks at every step.
Expert Analytical Support
Our in-house bioinformatics team provides customizable pipelines for variant calling, genome assembly, phasing, structural variant detection, repeat expansions, and more.
Tailored to Your Research Needs
We support human genome sequencing at individual, trio, cohort, and population scales with custom coverage options and analysis workflows.
Research Areas We Serve
From rare disease discovery to population-scale genomics, our HiFi sequencing platform delivers the resolution and accuracy needed for breakthrough research across diverse fields.
Inherited Disorders and Carrier Screening
Reveal hidden variants and complex inheritance patterns with long-read data that captures full gene structures and phased haplotypes
Pediatric & Hereditary Cancer
Uncover germline and somatic mutations, repeat expansions, and structural rearrangements that drive hereditary and childhood cancers
Complex Trait Genetics
Resolve challenging genomic regions to connect structural variants and haplotypes with multifactorial traits
Pharmacogenomics
Characterize full-length pharmacogenes and allele combinations to improve drug response prediction and personalized medicine research
Rare Disease and Undiagnosed Conditions
Gain new insights into unsolved cases by detecting variants missed by arrays or short-read sequencing, including repeat expansions and novel insertions
Human Population Studies
Generate complete, phased genomes that enhance understanding of population diversity, ancestry, and evolutionary genetics
Population-scale Reference Panels
Build high-confidence reference datasets with uniform, high-accuracy reads that improve variant calling and imputation across large cohorts
Genome Assembly & Benchmarking
Achieve high-quality assemblies with clean reads that set new standards for reference genomes and validation datasets
What Sets Us Apart?
HudsonAlpha combines the scalability of a sequencing center with the scientific depth of a research institute. You're not just sending your samples, you're gaining a trusted partner in discovery. Our scientists work closely with your team to tailor the approach and maximize the value of your data.
Specifications at a Glance
Service Workflow
Sample Submission
We accept a range of human sample types (blood, tissue, saliva, cell lines). Our team provides guidance on DNA input requirements for optimal long-read results.
High-Molecular-Weight DNA Extraction
We extract and QC DNA to meet PacBio's stringent standards for HiFi sequencing. Extraction methods are optimized for yield, integrity, and fragment length.
Library Preparation & Sequencing
Libraries are prepared using the latest PacBio workflows for Revio and sequenced using optimized loading and run conditions to maximize data output and quality.
Bioinformatics & Analysis
Standard and advanced pipelines available:
- De novo or reference-guided assembly
- Structural variant detection
- SNP/INDEL calling
- Phasing and haplotyping
- Repeat expansion analysis
- Gene annotation & functional insight
Data Delivery & Support
Receive secure, organized data packages with all primary and secondary analysis files. Optional consultation available for downstream interpretation or publication support.
Contact Us Today
Join researchers around the world who trust HudsonAlpha for long-read human genome sequencing. Whether you're launching a pilot or scaling to thousands of samples, our team is ready to collaborate.
Custom service quotes and consultations available upon request
Questions? Contact us directly:
