PacBio announces HiFi Solves, a global consortium of clinical genomics research leaders

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PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the formation of the HiFi Solutions Consortium. This global consortium brings together researchers from 15 leading genomics research institutions in 11 countries to study the value of HiFi-based human genome sequencing in clinical research applications and our understanding of genetic diseases. These institutions will collaborate to develop and share best practices on data generated from PacBio Revio sequencing systems, with the goal of leveraging the comprehensiveness and completeness of HiFi genomes in human genetics research applications.

The launch of Revio enables researchers to scale HiFi long-read sequencing to an unprecedented scale,” said Christian Henry, President and Chief Executive Officer of PacBio. “By creating this consortium, we aim to accelerate the global adoption of hyphae sequencing in human genomics by sharing best practices so that we can potentially offer families to complete their diagnostic odyssey.”

Through our ongoing rare disease-focused collaboration with PacBio, we have seen tremendous success in using HiFi native long-read sequencing to explore the underlying causes of rare genetic diseases that are challenging to detect using other genomic methods,” said Wendy van Gelst-Stams, Rare professor of disease care and the new head of the human genetics department at Radboud University Medical Center. “We look forward to sharing best practices in the use of this technology for rare disease research with our global colleagues as we believe it offers the potential to provide tremendous benefits to families in their search for answers.” does.”

PacBio HiFi long-read sequencing has the potential to become a single front-line assay for researchers interrogating rare disease cohorts because of its ability to accurately call and phase all classes of variants, whereas other technologies require multiple assays. Through the HYFI Solves consortium, researchers will study the utility of HYFI sequencing to interrogate the many potential genetic mechanisms underlying rare diseases.

Members of the HiFi Solves consortium will provide an overview of its goals and activities at the annual meeting of the American Society of Human Genetics in Washington, DC, and share recent findings, particularly around exploring potentially clinically relevant genes that have high sequence homology or otherwise complex regions of the human genome.

Participating organizations of the HiFi Solutions Consortium are:

• Bioscientia Institute for Medical Diagnostics (GmbH) (Germany)

• Broad Institute of MIT and Harvard (USA)

• Children’s Hospital of Eastern Ontario (Canada)

• Children’s Mercy Kansas City (USA)

• Chulalongkorn University (Thailand)

• Hospital for Sick Children (SickKids) – (Canada)

• i-Lac (Japan)

• Karolinska University Hospital and Karolinska Institute (Sweden)

• KK Women’s and Children’s Hospital (Singapore)

• Max Planck Institute for Molecular Genetics (Germany)

• Medizinische Universität Innsbruck (Austria)

• National Center for Child Health and Development (Japan)

• Radboud University Medical Center (Netherlands)

• Scilifelab (Sweden)

• University of Leuven (Belgium)

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