HiFi long-read sequencing delivers the accuracy and completeness needed to fully understand human biology and disease. Unlike other sequencing technologies, HiFi sequencing resolves complex genomic regions, phases haplotypes, and captures full-length isoforms and methylation, enabling researchers to study the genome, transcriptome, epigenome, and methylome together with exceptional precision.
From uncovering repeat expansions in neurological disorders, to profiling immune repertoires, to characterizing rare variants at the transcript level, HiFi technology is transforming human genomics research and driving discoveries that improve our understanding of human biology and disease.
Neuroscience
Uncover genetic drivers of neurological, neuromuscular, and neurodegenerative disorders using a multiomic approach.
Immunogenomics
Improve HLA typing, near-full-length TCR/BCR sequencing, and discover novel IGH alleles for immunology research.
Brochure
SCALING HUMAN DISEASE RESEARCH WITH HIFI SEQUENCING
Unlock a deeper view of human biology and disease research with HiFi sequencing featuring ultra-accurate, long reads that seamlessly integrate genome, transcriptome, epigenome, and methylome.
Spotlight
Multiomics on a single platform
Learn more about a landmark study using the PacBio Revio system to capture the genome, methylome, chromatin epigenome, and transcriptome on a single SMRT Cell, characterizing variation from different levels of biology to explain different phenotypes in a complex rare disease case.
Spotlight
Setting a new benchmark with Platinum Pedigree
A Nature Methods study leveraged HiFi sequencing for a four-generation, 28-member family to create the most comprehensive “truth set” of human genetic variants to date, expanding benchmarked regions by ~244 Mb and refining estimates of de novo mutation rates, providing a powerful new standard for training and evaluating variant calling methods.
Computational tools
Discover more from your HiFi data
PacBio- and community-developed tools and pipelines enable comprehensive analysis of HiFi data to drive discoveries in human genomics research. From Variant calling to de novo assembly, isoform discovery, fusion detection, and methylation profiling, these tools help researchers unlock the full power of long reads across applications.
Learn more PacBio GitHub page PacBio Bioconda
“[The previously missing portion] of the genome has not been overlooked because of a lack of importance but rather because of technological limitations. High-accuracy long-read sequencing has finally removed this technological barrier.”
- Nurk et al. (2022) The complete sequence of a human genome. Science Vol 376, Issue 6588, pp. 44-53
Customer case study
Breakthrough in ALS Genetics
Using HiFi sequencing, researchers at University of Washington revealed a novel tandem repeat variant linked to amyotrophic lateral sclerosis (ALS).
Advancing Cardiology Research with Long-read RNA Sequencing
Learn how researchers use single-cell and spatial transcriptomics to uncover novel splicing events, isoform switching, and gene regulation in Down syndrome and myocardial infarction.
How Kinnex long-read RNA sequencing wins out over Illumina for transcript-level quantification
Researchers compare Kinnex long-read RNA-Seq data against Illumina short reads for transcript quantification accuracy with ultra-deep sequencing of the WTC-11 cell line.
Explore
Did you know we have a more comprehensive library of articles, reports, papers, and videos related to human genomics?