From insights to clinical impact, at a global scale
HiFi Solves brings together the world’s leading clinical genomics researchers to leverage PacBio HiFi sequencing for uncovering the potential causes of genetic diseases that may be difficult to detect with other sequencing methods. This community is committed to exploring the efficacy of HiFi sequencing, promoting data sharing, and fostering collaboration to drive scientific discoveries and implementation. Our mission is to support the global adoption of long-read sequencing, accelerate genomic discoveries, and cultivate a scientific community grounded in shared knowledge, best practices, and innovation. HiFi Solves is setting a new standard in clinical genomics, empowering researchers worldwide to realize the full potential of HiFi genomes.
HiFi Solves EMEA HiFi Solves Americas HiFi Solves APAC
Population genomics
Utilize scalable long-read sequencing to explore genomic variation, driving precision medicine initiatives in diverse populations.
Whole genome sequencing
Achieve more complete and phased human genome assemblies, providing deeper insights into the genetic complexity of health and disease.
Repeat Expansions
Accurately resolve repetitive regions to power screening and discovery applications.
Clinical Research
Get detailed information into complex genetic regions by detecting structural variants and repeat expansions to accelerate personalized medicine in clinical research.
HiFi Solves Europe, Middle East and Africa
Focus area: Clinical implementation, rare disease research
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Shortening the journey to rare disease explanations
Discover how Professor Lisenka Vissers and her team at Radboud University Medical Center (Radboudumc), a HiFi Solves member institution in the Netherlands, are using HiFi sequencing to expedite the search for rare disease explanations.
Investigator Spotlight
Alexander Hoischen, PhD leads the research group of Genomic Technologies for Immune-Mediated and Infectious Disease at Radboud University Medical Center in Nijmegen, Netherlands. The group at Radboudumc have been early adopters of HiFi sequencing and are actively involved in several collaborative efforts to show the clinical research value of HiFi genomes. Alex and his team started HiFi Solves EMEA with a “group of early adopters of long-read sequencing, from centers with great clinical expertise in the field of human genetics, and actively exchange and collaborate on clinical utility studies.”
HiFi Solves AMERICAS
Focus area: Clinical implementation, genetic disease research
Improving solve rates in a pediatric rare disease cohort
In this study, authors describe the Genomic Answers for Kids (GA4K) program established by the Children’s Mercy Research Institute (Kansas City, Missouri, USA), a HiFi Solves member institution, which supports clinical research through development of comprehensive phenotype-genotype data repository within a large pediatric health care system. GA4K includes hundreds of samples with HiFi whole genome sequencing, including rare disease probands and family members. This study describes how HiFi sequencing was used to improve SV detection by identifying more than 4x rare coding SVs compared to short read WGS. This research helped improve solve rates in a short-read negative cohort, as well as a cohort with no prior testing.
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Investigator Spotlight
Kym Boycott, MD, PhD is a Professor of Pediatrics at the University of Ottawa, Clinical Geneticist at CHEO, and a Senior Scientist at the CHEO Research Institute (a HiFi Solves member institution). She leads the national Care4Rare Canada Consortium, which employs advanced genomic technologies like PacBio HiFi sequencing to tackle the most complex rare diseases. This technology enables precise identification of pathogenic variants and novel disease-associated genes, key to her research in rare disease.
— Kym Boycott, MD, PhD, Professor of Pediatrics at the University of Ottawa, Clinical Geneticist at CHEO, and a Senior Scientist at the CHEO Research Institute“HiFi sequencing has begun to show its early successes in identifying rare disease mechanisms that are intractable to the other available technologies at this time…It has been used to find complex genomic rearrangements, insertions and deletions that are otherwise being missed.” Learn more
HiFi Solves Asia-Pacific
Focus area: Sub-fertility, reproductive health research
Advancing reproductive health research with HiFi sequencing
HiFi Solves in the Asia-Pacific region highlights the groundbreaking efforts of the Sub-fertility Consortium, a collaboration of five leading institutions across Asia. This consortium is at the forefront of using PacBio HiFi sequencing to revolutionize the diagnosis and treatment of subfertility and recurrent miscarriages. By advancing the genetic understanding of fertility issues, the consortium is driving breakthroughs for those affected by underlying genetic conditions. Their work aims to elevate assisted reproductive treatments through more precise genetic insights, setting a new standard in reproductive health research and offering hope to families worldwide.
Investigator Spotlight
Associate Professor Saumya Jamuar, Lead Principal Investigator of the Singapore Undiagnosed Disease Program and Senior Consultant, Genetics Service at KK Women’s and Children’s Hospital, as well as Director of the SingHealth Duke-NUS Institute of Precision Medicine, leads the HiFi Solves Sub-fertility Consortium.
Associate Prof Jamuar’s research leverages long-read sequencing at KK Hospital to better understand the genetic underpinnings of rare or undiagnosed diseases. According to him, “As a clinician and researcher, I am committed to advancing research that can lead to more accurate diagnoses for subfertility patients. This consortium offers an exciting opportunity to deepen our understanding of genetic contributors to reproductive health and improve patient outcomes.”
Empowering Global Genomic Collaboration Through Secure Data Sharing
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Federated data sharing and community research
HiFi Solves members can contribute data to a federated platform hosted by DNAstack, enabling seamless global collaboration while ensuring data remains secure and compliant with Global Alliance for Genomics & Health standards. This platform allows members to compare findings, query data, collaborate on research, and access a large network of HiFi sequencing users without moving data outside their institutions. Through data sharing on this platform, HiFi Solves fosters innovation in the study of specific diseases and regions of the genome.
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Cataloging long-read variants for enhanced clinical insights
Clinical interpretation of genetic variants often hinges on filtering out common variation found in population databases. However, these databases are predominantly built on short-read next-generation sequencing data, which falls short in identifying complex variants uncovered by advanced HiFi sequencing. The Consortium of Long Read Sequencing (CoLoRS) has created CoLoRSDB, a pioneering database that captures variant frequency data from HiFi sequencing across both disease and population control cohorts. This invaluable resource is now publicly available, offering a powerful tool for more accurate and comprehensive genetic interpretation.