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HUMAN GENOMICS



Uncompromising power to unlock the genome to improve human health



Connect with a PacBio scientist

 * Human genomics
 * Genetic testing
 * Clinical research
 * Pop Gen
 * Human research
 * Biopharma


HUMAN GENOMICS SOLUTIONS



PacBio HiFi sequencing delivers highly accurate, single-molecule long reads for
analyzing both DNA and RNA, allowing you to explore the full extent of human
genetic variation with a more comprehensive view of the genome, transcriptome,
and epigenome than ever before. The benefits of HiFi sequencing — and its
numerous applications in human genomics — are ready to enable your next great
discovery.






GENETIC TESTING



Illuminate complex regions of the genome that are crucial for disease
identification.



Learn more


CLINICAL RESEARCH



Get detailed information into complex genetic regions by detecting structural
variants and repeat expansions to accelerate personalized medicine in clinical
research.



Learn more


POPULATION GENETICS



Utilize scalable long-read sequencing to explore genomic variation, driving
precision medicine initiatives in diverse populations.



Learn more


HUMAN RESEARCH



Learn how highly accurate sequencing can help resolve complexities in human
disease research.



Learn more


BIOPHARMA



Explore how highly accurate sequencing can be used to support research and
development of potential treatments for disease.



Learn more


HUMAN GENOMICS — HOW PACBIO HIFI SEQUENCING COMPARES

PacBio HiFi Illumina Oxford Nanopore Average read length 15–20 kb 150 bp 10–100
kb Median read accuracy
99.95% (Q33)1
99.92% (Q31)2
98.90% (Q19)3
Coverage Unbiased Reduced at low and high [GC] Reduced in low-complexity runs
Variant calling: SNVs4
__ __
Variant calling: indels4
Variant calling: SVs4
__
Genome assembly: contiguity5,6
Genome assembly: accuracy5,6
__ Areas of high homology (pseudogenes, dark regions) __ Phasing

* via raw reads

1. Read accuracy PacBio HiFi: precisionFDA Truth Challenge V2
2. Illumina: HG002 2×150 bp NovaSeq library, precisionFDA Truth Challenge V2
3. ONT: Q20+ chemistry (R10.4, Kit 12), Oct 2021 GM24385 Q20+ Simplex dataset
release
4. Shafin Nat Methods 2021 (https://doi.org/10.1038/s41592-021-01299-w)
5. Cheng 2021 Nat Methods (https://doi.org/10.1038/s41592-020-01056-5)
6. Shafin 2020 Nat Biotech (https://doi.org/10.1038/s41587-020-0503-6)

Brochure


HUMAN GENOMICS



The length and accuracy of HiFi reads allow you to access genomic dark regions
such as areas of high homology, GC-rich and repetitive regions, and to resolve
complex gene families like HLA and pharmacogenes like CYP2D6. PacBio HiFi reads
are typically around 15 kb in length with an accuracy of 99.9% and can sequence
through GC-rich regions and even repeats in segmental duplications and
centromeres — all while delivering simultaneous 5-methylcytosine (5mC) calls for
a commanding view of the genome.



Learn more



HUMAN GENOMICS IN ACTION

REPORT

REVEAL MORE GENETIC DISEASES WITH LONG-READ SEQUENCING



Identify the potential cause of unsolved genetic diseases with highly accurate
HiFi sequencing.



Download now



THE COMPLETE SEQUENCE OF A HUMAN GENOME



A landmark study by members of the Telomere-to-Telomere Consortium is the…



Learn more

Repeat expansion panel for clinical research



The PureTarget repeat expansion panel offers a robust, end-to-end workflow
designed to reduce iterative testing using legacy technology and reduce the time
needed to identify neurological disease-causing variants and associated
methylation signatures.



Learn more

FULL-LENGTH RNA SEQUENCING OF ALZHEIMER’S



Long-read mRNA sequencing with the Iso-Seq method is used to sequence an
Alzheimer’s…



Learn more

EXPLORE



Did you know we have a more comprehensive library of articles, reports, papers,
and videos related to human genomics?



Explore resources


UNCOVERING THE UNSEEN IN HUMAN GENOMIC RESEARCH SEQUENCING



Learn how these new applications will enable you to:

 * More accurately identify human disease-causing tandem repeat changes than
   ever before with TRGT, a software solution for state-of-the-art tandem repeat
   analysis.
 * More easily and cost-effectively obtain detailed sequences of just the genes
   you care about at scale, with the power of targeted HiFi sequencing and
   custom gene panels developed by Twist Bioscience.



Watch webinar


UNLOCK YOUR NEXT GREAT DISCOVERY IN HUMAN GENOMICS






36,000 REASONS TO USE HIFI SEQUENCING

In 2019, scientists at the Mayo Clinic identified 36,794 dark regions in 6,054
gene bodies from pathways important to human health, development, and
reproduction based on standard whole-genome short-read sequencing data.1 There
are potentially thousands of important regions that can be missed without HiFi
sequencing.

 


HIFI SEQUENCING REVEALS A MORE COMPLETE HUMAN REFERENCE GENOME

The complete, gapless human genome marks a new era of genomics where no region
of the genome is beyond your reach. In 2021, PacBio HiFi technology was used by
the Telomere-to- Telomere (T2T) Consortium to fill in those gaps.








ACHIEVE FEWER ERRORS DURING VARIANT DETECTION

PacBio HiFi technology was found to have the fewest total errors when compared
to other technologies by the PrecisionFDA’s Truth Challenge V2: Calling variants
from short and long reads in difficult-to-map regions.5

 


IDENTIFY INDELS WITH CONFIDENCE 

A 2019 University of Washington study found that insertion-deletion mutations
(indels) are routinely missed by short-read next generation sequencing (NGS) and
long reads deliver 2.48 times as many structural variants as short reads alone,
even “at their maximum capacity.” It is estimated that “at least 48% of
deletions and 83% of insertions are routinely missed by the application of
multiple short-read-calling algorithms.”2






SEE MORE STRUCTURAL VARIANTS

The 1000 Genomes Project sequenced 32 diverse reference genomes with PacBio
technology, resulting in the de novo assembly of high-quality haplotype-resolved
human genomes without parent-child trio data, or 64 assembled haplotypes from 32
genomes. Of the 107,590 structural variants identified, 68% were not discovered
with short-read sequencing.4

 


OVERCOME PGX CHALLENGES

Interrogating CYP2D6 using short-read sequencing is challenging because of the
degree of variation at the CYP2D6 locus and homology with its pseudogenes.
Long-read sequencing can overcome these challenges.6







1. “Systematic analysis of dark and camouflaged genes reveals disease-relevant
genes hiding in plain sight” Fryer et al. Genome Biol. 2019 May 20;20(1):97
2. “Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.”
Eichler EE. N Engl J Med. 2019;381(1):64-74
3. A complete human genome sequence is close: how scientists filled in the gaps
https://www.nature.com/articles/d41586-021-01506-w
4. Ebert, Peter & Audano, Peter & Zhu, Qihui & Rodriguez-Martin, Bernardo &
Porubsky, David & Bonder, Marc Jan & Sulovari, Arvis & Ebler, Jana & Zhou,
Weichen & Mari, Rebecca & Yilmaz, Feyza & Zhao, Xuefang & Hsieh, PingHsun & Lee,
Joyce & Kumar, Sushant & Lin, Jiadong & Rausch, Tobias & Chen, Yu & Ren, Jingwen
& Eichler, Evan. (2021). Haplotype-resolved diverse human genomes and integrated
analysis of structural variation. Science. 372. eabf7117.
10.1126/science.abf7117.
5. https://precision.fda.gov/challenges/10
6. Yang Y, Botton MR, Scott ER, Scott SA. Sequencing the CYP2D6 gene: from
variant allele discovery to clinical pharmacogenetic testing. Pharmacogenomics.
2017 May;18(7):673-685.





> “The SOLVE-RD team knows that long-read HiFi sequencing is
> 
> essential
> 
> for discovering the causal elements that have proven elusive with previous
> approaches.”
> 
> — Alexander Hoischen, PhD, Associate Professor for Genomic Technologies and
> Immuno-Genomics and a member of the SOLVE-RD team at Radboud University
> Medical Center

SHAPING THE FUTURE


CHILDREN’S MERCY KANSAS CITY FINDS INSIGHTS



Children with complex rare diseases are at the forefront of clinical research
discoveries at Children’s Mercy Kansas City. See how scientists are moving
beyond microarrays and exomes to enable improved care.



Read More




APPLICATIONS TO FUEL HUMAN GENOMICS RESEARCH


WHOLE GENOME SEQUENCING



Generate more complete and phased human genome assemblies of diverse populations
to better understand the complexity of health and disease.



Learn more


RNA SEQUENCING



Bring certainty to isoform detection with long-read sequencing to decipher how
genomic variants drive the phenotypic differences between health and disease.



Learn more


TARGETED SEQUENCING



Accurately detect and uncover more variant types even in hard-to-reach regions
of the genome.



Learn more


STRUCTURAL VARIANT DETECTION



Resolve variants at every scale to improve the power to link genetics to
phenotypes of interest for novel discovery of genes and probable causative
variants.



Learn more


HUMAN GENOME MAPPING TO UNDERSTAND HUMAN HEALTH AND DIVERSITY






PAVE A PATH TO DIAGNOSTIC DISCOVERY



With 99.9% accuracy and long read lengths up to 25 kb, HiFi sequencing allows
scientists to find possible causative pathogenic variants and identify novel
disease-associated genes through:


BEST-IN-CLASS VARIANT CALLING FOR ALL VARIANT TYPES

HiFi sequencing includes solutions for single nucleotide variants (SNV), indels,
copy number variants (CNVs), structural variants (SVs) and repeat expansions.


MORE COMPLETE, ACCURATE, AND PHASED ASSEMBLIES OF THE HUMAN GENOME

Sequence regions previously inaccessible to other technologies — for accurate
typing of genes including HLA and CYP2D6.


UNIFORM COVERAGE

Achieve the coverage needed to access a more complete size spectrum of cancer
mutations so that you can:

 * Reveal patterns of structural variants
 * Characterize genotypic differences between cohorts that respond differently
   to treatment by phasing distant SNPs or identifying structural variants
 * Look beyond SNVs and robustly detect all structural variants to reveal novel
   insights not possible with short-read sequencing








IDENTIFY GENETIC DRIVERS OF DISEASE



To identify the genetic drivers of diseases, scientists must have access to a
more complete genomic landscape, including regions previously deemed nearly
impossible to sequence, and the tools to examine the full range of genomic
variation.

The PacBio systems using Single Molecule, Real-Time (SMRT) sequencing provide
exceptionally long reads, uniform coverage, and high consensus accuracy. This
technology enables scientists to gain a more comprehensive understanding of the
genetic basis of disease.






UNDERSTAND HOW TO HARNESS THE BENEFITS OF MEDICATION



Pharmacogenomics (PGx) impacts patient care by utilizing genomic information to
assess an individual’s response to certain medications. PGx can be used to
predict adverse drug reactions or decreased efficacy, leading to improved health
outcomes and decreased costs. An estimated 99% of people have actionable
variants in PGx genes,1,2 and studies have shown that up to 55% of adults2 are
prescribed drugs for which there are PGx guidelines available. HiFi sequencing
provides high-resolution insight into PGx loci, which include complex variants
such as pseudogenes, tandem repeats, and CNVs.

1. McInnes G, Lavertu A, Sangkuhl K, Klein TE, Whirl-Carrillo M, Altman RB.
Pharmacogenetics at scale: An analysis of the UK Biobank. Clin Pharmacol Ther.
2021 Jun;109(6):1528-1537. doi: 10.1002/cpt.2122. Epub 2020 Dec 17. PMID:
33237584; PMCID: PMC8144239.
2. Chanfreau-Coffinier C, Hull LE, Lynch JA, DuVall SL, Damrauer SM, Cunningham
FE, Voight BF, Matheny ME, Oslin DW, Icardi MS, Tuteja S. Projected prevalence
of actionable pharmacogenetic variants and level A drugs prescribed among US
Veterans Health Administration pharmacy users. JAMA Netw Open. 2019 Jun
5;2(6):e195345. doi: 10.1001/jamanetworkopen.2019.5345. PMID: 31173123; PMCID:
PMC6563578.








UNCOVER THE COMPLEXITIES OF IMMUNITY



From SNVs to structural variants, isoforms and somatic hypermutation, see the
full range of variation that impacts the immune response in infectious disease,
cancer, or autoimmunity.

The loci encoding the critical components of the vertebrate immune system are at
once highly variable from person to person and hard to sequence. Only HiFi
sequencing combines single-molecule accuracy with long read lengths, allowing
you to:

 * Generate fully phased haplotypes of immunologically important NGS dead zones
   including the KIR and IGH loci
 * Determine HLA haplotypes unambiguously and without imputation
 * See the full diversity of the adaptive immune response in action with full-
   length transcripts and isoforms in targeted, bulk, or single-cell experiments






FEATURED SEQUENCING SYSTEMS



Our portfolio of sequencers drive improvements in rare disease research, inspire
personalized approaches to medicine, and enable the promise of genomics to
better human health.



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TALK WITH AN EXPERT

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