WHAT MAKES YOUR POPULATION UNIQUE?
Population genomics explores genomic variation and traits within a given population. Legacy genetic testing may be biased towards known variants, so variants that are rare, novel, or unique to underrepresented populations may be missed. Long-read sequencing provides a scalable, ancestry-agnostic approach that enables us to understand health, complex traits, and the susceptibility to certain diseases.
Population genomics programs leverage economies of scale to create large, diverse, and comprehensive datasets that can fuel research and precision health programs for years to come. Such data repositories should ideally contain the most complete, high-quality genomic information while remaining cost-effective to produce, in order to provide long-term benefits to clinical and scientific research communities.
PacBio HiFi sequencing is ideal for:
- Delivering phased information with high accuracy, completeness, and resolution of all variant classes for reference-grade genomes
- Robust coverage across challenging or repetitive regions
- Genome-wide methylation status for epigenetic studies
Whole genome sequencing
Generate more complete and phased human genome assemblies to better understand rare disease.
Repeat expansions
Accurately resolve repetitive regions to power screening and discovery applications.
Clinical research
Efficiently capture clinically-relevant genes and variants on a single platform, while shedding light on complex regions of the genome.
HiFi Solves
Learn more about global initiatives that leverage long-read sequencing at scale to power studies in population health and disease.
Spotlight
Long-read sequencing for all
Learn about a technical pilot and benchmarking analysis conducted by researchers at multiple institutions involved with the All of Us (AoU) program in the US. Discover how HiFi sequencing is being used to power population genomics initiatives around the world. Read more about the study in this blog post.
On-demand webinar
Revving up to population scale
Hear from Adam Ameur, PhD (Associate Professor, SciLifeLab, Uppsala, Sweden) as he discusses how SciLifeLab scaled HiFi whole genome sequencing with Revio to support the Genomic Medicine Sweden project.
Build your population’s reference genome
Building a population-specific reference genome is a cost-effective way to help your program better represent the genetic diversity in your populations of interest and to enable accurate variant calling for non-European ancestries. HiFi sequencing can easily be used to create reference genomes with high completeness, correctness, and contiguity.
“HiFi reads allow the accurate and simultaneous detection of all variant classes, and provide a rich genetic context of the regions of interest, paving the way for advancements in human genetics and greatly expanding the utility of SMRT sequencing.”
— Fritz Sedlazeck, PhD, Associate Professor, Human Genome Sequencing Center at Baylor College of Medicine
Increased variant detection, more complete datasets
Small variants (SNVs and indels) are the most abundant class of variation. However, structural variants (because they are larger in size than small variants) account for more genomic variation between two individuals than SNVs and indels combined.
HiFi sequencing accurately detects small and structural variants, allowing for a more comprehensive analysis of all variation types and the potential to improve the relatively static solve rates of short-read whole genome sequencing (WGS) and whole exome sequencing (WES).
With fuller resolution of these variant types, researchers have a better chance of truly understanding human genetic diversity and disease association.
Compared to short-read WGS, HiFi long reads enable the interrogation of significantly more variant types, such as SVs, segmental duplications, and tandem repeats, but HiFi WGS reads also provide the genome-wide 5mC signal and allow variant phasing.
Spotlight
Customer Success Story: Baylor College of Medicine
Learn how the BCM Human Genome Sequencing Center transitioned to the Revio system to scale their high-volume long-read sequencing projects.
Population genetics progress powered by epigenetics
HiFi sequencing provides accurate DNA base calls and simultaneous 5mC detection in CpG context without any additional library preparation or costs.
This feature enables the resolution of methylation profiles with phased haplotyping. Human genome researchers can also use this capability to interrogate imprinting disorders and methylation abnormalities associated with tandem repeats.
Population genomics in action
See what you’re missing in dark regions
Many medically-relevant genes fall in regions of the genome that are challenging to resolve or inaccessibly by short read sequencing. Learn how to leverage targeted enrichment panels and analysis tools with PacBio to characterize these regions.
HiFi target enrichment with Twist probes
Understand how you can get all the benefits of long and accurate HiFi reads at scale with capture probes from Twist. For challenging/particular regions of interest, the optimized Twist capture approach is the way to go.
Straightforward epigenome analysis with HiFi
Gain a more complete view of the methylation status as an additional fifth base signal in your sequencing experiment without requiring special library preparation like bisulfite treatment. Detect distinct regional epigenetic patterns, access methylation in the full genome, and identify allele-specific methylation.
Tunable HiFi Genomes
HiFi offers you genome coverage options — from 10× to 30× — with published detection performance across variant classes and methods, enabling you to maximize the yield of your research budget. Whether you are generating population-wide or individual-level insights, the coverage options of HiFi sequencing can help you achieve long-term and broad utility of the data.
Explore
Did you know we have a comprehensive library of articles, reports, papers, and videos related to human genomics?