RETHINK WHAT’S POSSIBLE IN HUMAN HEALTH AND DISEASE RESEARCH
PacBio HiFi sequencing allows for comprehensive and accurate characterization of clinically-relevant regions of the genome
that may be missed or not able to be detected using other technologies.
Long-read sequencing captures entire genes, resolves repetitive sequences, and identifies complex structural variations, with phasing and methylation included. By offering a more complete and accurate picture of the human genome, researchers can improve understanding and potential solve rates in rare disease cases, identify disease-associated variations without ancestry bias, better understand human biology, and potentially identify therapeutic targets.
Rare disease
Increase rare disease solve rates and better understand biological mechanisms of disease.
Repeat Expansions
Accurately resolve repetitive regions to enhance screening and discovery applications.
Targeted sequencing
Comprehensively sequence clinically-relevant genes of interest cost-effectively at scale.
Population genomics
Utilize scalable long-read sequencing to explore genomic variation, driving precision medicine initiatives in diverse populations.
Spotlight
Closing the gap: solving complex medically relevant genes at scale
Learn how researchers leverage a targeted sequencing panel to analyze and phase variants across 389 medically important yet complex autosomal genes. The authors demonstrate this cost-efficient and scalable approach to routinely assess dark regions of the genome with clinical relevance.
Video
Drive clinical research at scale with the Revio system
Hear from Anthony Griswold, PhD (Associate Professor, University of Miami) on how the enhanced capabilities of Revio are powering clinical research at his institution.
Webinar
Powering Clinical research with HiFi sequencing
Discover how Lisenka Vissers and the team at Radboudumc (Radboud, Netherlands) are using PacBio whole genome sequencing as a first-tier assay for discovering rare and novel variation underlying rare disease cases.
How does HiFi sequencing advance research in single and multi-gene disorders?
Many of the target genes involved in recessive disorders such as spinal muscular atrophy, thalassemia, and congenital adrenal hyperplasia have been historically challenging to sequence. Without the right sequencing tools, they require a combinatorial approach to fully uncover their genetic makeup and context.
However, PacBio whole-genome and targeted long-read sequencing solutions, in combination with specialized variant callers, enable a robust and cost-effective solution for those challenging regions, drive consolidation of conventional molecular methods, and enable more scientific insights.
Application note
Amplicon testing for GBA research
GBA is associated with Gaucher’s disease, Parkinson’s, and other phenotypes, but is challenging to sequence as it has hundreds of known variants and a pseudogene. Learn how PacBio amplicon sequencing can accurately characterize this region and power clinical research of these phenotypes.
On-demand webinar
Efficiently analyze PacBio genomes
Learn how to leverage cutting-edge bioinformatics and analyses tools to enable exploration of the human genome. Speakers discuss how integration of these tools into a cohesive, user-friendly pipeline can be adapted to easily and efficiently scale clinical research.
