PacBio HiFi Sequencing Powers First Arab Human Pangenome, Published in Nature Communications

Rhea-AI Summary

PacBio (NASDAQ: PACB) has announced a major breakthrough in genomic research with the publication of the first Arab human pangenome in Nature Communications. The study, led by Mohammed Bin Rashid University, utilized PacBio's HiFi long-read sequencing technology to analyze genomes from 53 individuals across eight Arab countries.

The research uncovered 111 million previously unknown base pairs of DNA sequences, 8.94 million small variants, and 235,000 structural variants unique to Arab individuals. The study also identified 883 duplicated genes and over 1,400 base pairs of new mitochondrial DNA. This breakthrough is particularly significant as Arab populations, despite representing 6% of the global population, have been historically underrepresented in genomic research.

Positive

• Discovery of 111 million previously unknown base pairs and millions of new genetic variants specific to Arab populations
• Early data shows improved variant detection accuracy using the new UAE Pangenome Reference (UPR)
• Strengthens PacBio's leadership position in global genomics through major pangenome initiatives
• Demonstrates successful commercial adoption of PacBio's Revio platform by early customers

Negative

• None.

Insights

Genomics Technology Expert

PacBio's HiFi sequencing enables groundbreaking Arab pangenome study, strengthening their position in the high-resolution genomics market.

The publication of the first Arab human pangenome in Nature Communications represents a significant technical achievement for PacBio and a valuable scientific contribution. The study utilized PacBio's HiFi long-read sequencing technology to assemble high-resolution genomes from 53 individuals across eight Arab countries, uncovering 111 million base pairs of previously unsequenced DNA and identifying 8.94 million small variants and 235,000 structural variants unique to Arab individuals.

What makes this particularly noteworthy is that these variants were largely undetectable using conventional short-read sequencing methods. This highlights the technical differentiation of PacBio's long-read approach, which can capture complex structural variations and previously inaccessible genomic regions. The fact that MBRU was one of PacBio's earliest Revio customers demonstrates real-world validation of their latest sequencing platform.

The creation of population-specific reference genomes represents a growing market opportunity for PacBio. With Arab populations comprising nearly 6% of humanity yet historically underrepresented in genomic databases, this study opens doors to similar projects for other populations. For PacBio, this publication serves as a powerful demonstration of their technology's capabilities in capturing complex genomic information, potentially strengthening their competitive position against both short-read and other long-read sequencing providers.

The study's finding that using the UAE Pangenome Reference improves variant detection accuracy specifically in Arab genomes creates a compelling scientific case for population-specific approaches in genomic medicine – an area where PacBio's technology appears well-positioned to contribute.

Study reveals millions of previously unknown variants and genomic sequences from underrepresented populations

MENLO PARK, Calif., July 24, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced a significant advancement for global genomic equity. Researchers have published the first Arab human pangenome in Nature Communications, powered in large part by PacBio’s HiFi long-read sequencing. The study, led by Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), Dubai Health, assembled high-resolution genomes from 53 individuals representing diverse Arab populations across eight countries.

This study results in millions of newly identified variants and over 111 million base pairs of previously unsequenced DNA, in genomic regions that were missing from widely used human references.

“MBRU’s work demonstrates why population-specific pangenomes matter,” said Christian Henry, President and Chief Executive Officer of PacBio. “We are proud that MBRU, one of our earliest Revio customers, has delivered such a historic contribution to global genomics. This study will have lasting impact for research and precision medicine in a historically underrepresented population.”

Despite comprising nearly 6% of the global population, Arab individuals have been largely absent from the datasets that inform genomic research and medicine. Using PacBio HiFi sequencing in combination with other long-read and ultra-long-read technologies, researchers assembled diploid, haplotype-resolved genomes at exceptional quality, uncovering:

• 111 million base pairs of uncharacterized human genome sequences absent from existing human pangenomes, the T2T-CHM13 and GRCh38 reference human genomes and large-scale databases.
• 8.94 million small and 235,000 structural variants unique to Arab individuals, many undetectable by short-read methods.
• 883 duplicated genes, including TAF11L5, found in every individual studied and potentially linked to recessive disease.
• Over 1,400 base pairs of new mitochondrial DNA, adding resolution to maternal lineage tracking in Arab populations.

These findings have far-reaching implications for understanding disease risk, diagnosing rare conditions, and improving representation in global health research.

“By creating a high-resolution Arab pangenome we’re giving researchers and clinicians a tool to make precision medicine more equitable,” said Dr. Mohammed Uddin, senior author of the study and associate professor of human genetics at MBRU. “This achievement depended on long-read technologies, notably PacBio’s high quality HiFi sequencing, which allowed us to capture the full complexity of the genome, including structural variation and previously hidden sequences.”

Compared to existing references, the Arab pangenome, or UAE Pangenome Reference (UPR) delivered improved mapping rates, better variant recall, and greater insight into regions tied to recessive disease, many of which are more prevalent in Arab populations due to genetic structure and inheritance patterns.

It is freely available and intended to support ongoing research into genetic disorders, disease predisposition, and population health. Early data suggests that using the UPR as a reference can significantly increase variant detection accuracy in Arab genomes, helping researchers and clinicians better interpret genetic data from this population.

The publication follows other major pangenome initiatives supported by PacBio, including contributions to the Human Pangenome Reference Consortium (HPRC) and the Chinese Pangenome Consortium (CPC), further affirming PacBio’s leadership in global genomics.

About PacBio

PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies, which include our HiFi long-read sequencing, address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

Forward-Looking Statements

This press release contains “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, advantages, quality or performance of, or the benefits or expected benefits of using, PacBio products or technologies, including in connection with the Arab human pangenome publication and its anticipated impact on medical research, precision medicine, and increased variant detection, and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties that could cause actual outcomes and results to differ materially from currently anticipated results. These risks include, but are not limited to, rapidly changing technologies and extensive competition in genomic sequencing; unanticipated increases in costs or expenses; and other risks associated with general macroeconomic conditions and geopolitical instability. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption “Risk Factors.” These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available.

Contacts (MBRU)
Isabel Jennigs
isabel.jennings@dubaihealth.ae

Contacts (PacBio)
Investors:
Todd Friedman
ir@pacificbiosciences.com

Media:
pr@pacificbiosciences.com

FAQ

What is the significance of PacBio's Arab human pangenome study published in Nature Communications?

The study revealed 111 million previously unknown base pairs and 8.94 million variants unique to Arab populations, significantly advancing genomic equity and precision medicine for an underrepresented population that comprises 6% of global population.

How many individuals were included in PacBio's Arab pangenome study?

The study analyzed genomes from 53 individuals representing diverse Arab populations across eight different countries.

What are the key findings from PACB's UAE Pangenome Reference (UPR) study?

The study identified 8.94 million small variants, 235,000 structural variants, 883 duplicated genes, and over 1,400 base pairs of new mitochondrial DNA specific to Arab populations.

How will PacBio's Arab pangenome research impact healthcare?

The research will improve variant detection accuracy in Arab genomes, enhance understanding of disease risks, help diagnose rare conditions, and make precision medicine more equitable for Arab populations.

What technology did PacBio use for the Arab pangenome study?

The study primarily used PacBio's HiFi long-read sequencing technology in combination with other long-read and ultra-long-read technologies to assemble high-resolution genomes.