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A closer look at your genome.

Why the way your DNA is read changes how much of it you can actually use, and clear answers to the questions we hear most before you sequence.

HiFi sequencing

What makes HiFi sequencing different.

The benefits HiFi sequencing brings to a study or discipline are numerous, but four features give a real advantage over alternative sequencing approaches, regardless of the application.

Long read lengths

HiFi sequencing delivers reads of 15,000 to 20,000 base pairs or more, enabling researchers to confidently assemble reference-grade genomes and sequence full-length RNA transcripts.

High accuracy

Through circular consensus, HiFi sequencing generates reads with 99.9% accuracy.

Uniform coverage

By eliminating the bias associated with amplification, HiFi sequencing can analyze genomic regions often inaccessible to other technologies, such as hard-to-sequence AT- and GC-rich content, highly repetitive areas, long homopolymers, and palindromic sequences.

Native methylation detection

Because DNA is sequenced directly from the sample without amplification, base modifications are detected during sequencing from base-incorporation kinetics, capturing sequence and methylation in one experiment with no extra prep. Recent advances such as SPRQ-Nx chemistry broaden the detectable modifications (5mC, 5hmC, and 6mA), expanding its use for epigenetic and multiomic studies.

What are the applications of HiFi sequencing?

With long, accurate reads, uniform genomic coverage, and native methylation detection, HiFi sequencing has analysis applications across the full spectrum of biology.

  • Haplotype phasing
  • Detection of large and complex variants
  • Comprehensive, accurate genome assembly
  • Epigenetics

Haplotype phasing

Fully distinguishing each chromosomal copy, or haplotype (for example, maternally vs. paternally inherited), is critical when searching for the genetic basis of a trait or a complex heritable disease. The long-range nature of HiFi reads reduces statistical complexity and increases confidence in reconstructing each copy, in most cases removing the need for trio- or population-based phasing. In a recent study of spinal muscular atrophy (SMA), researchers used HiFi sequencing to identify two SMN1 haplotypes forming a common two-copy SMN1 allele in African populations; testing positive for both in someone with two SMN1 copies gives a silent-carrier risk of 88.5%, far higher than the 1.7% to 3.0% from the SNP marker used today.

Detection of large and complex variants

Because HiFi reads span large regions of the genome, they are adept at detecting variants genome-wide. Exceptionally large insertion-deletion events are notoriously hard to detect and are a HiFi specialty, and HiFi reads also resolve changes in tandem repeats and other highly recurrent regions that short reads cannot span. By improving the identification of structural variants (50 to 1,000 bp or more), HiFi sequencing has helped genome-wide association studies link disease phenotypes to novel genes and begin closing the missing-heritability gap.

Comprehensive, accurate genome assembly

HiFi sequencing is the premier technology for highly accurate genome assembly across all of life, from bacteria to humans to giant California redwoods. The length and accuracy of HiFi data ensure enough overlap between reads, even in areas of high homology, for assemblers such as hifiasm to reconstruct genomes with fewer errors and uncertain regions. The T2T Consortium used HiFi sequencing to help close the remaining 8% of the human genome and present the first complete human genome assembly in March 2022.

Epigenetics

Because HiFi analyzes sample molecules without an amplification step, researchers gain base-modification information (such as methylation) alongside the usual base calls, opening new ways to study heritable changes in gene expression. Since this methylation data is generated together with other HiFi applications, epigenetic effects can be studied in a haplotype-phased, variant-called context. Emerging methods such as Fiber-seq extend long-read sequencing further, mapping chromatin structure alongside DNA sequence.

The future of genomic discovery is long. As researchers pursue questions spanning ecosystem function to human health, long-read, and especially HiFi, sequencing can outperform the current standard in almost every aspect of genomic analysis. The potential of these technologies to usher in a new era of discovery is no longer just around the corner; it is here.

See the difference

Same genome. Very different amount of context.

It's easier to appreciate once you can watch it happen. Try resolving the same stretch of DNA three ways.

Selected markers

Marker test

<0.1% sampled

The upgrade is not more interpretation. It is more readable source material, captured once and kept for life.

Questions

More answers before you begin.

What do I actually receive?

Your long-read source files, the aligned genome, variant files, quality metrics, and a plain-English starting report, all yours to download and keep.