PacBio announces research study with Radboudumc to explore rare genetic diseases

PacBio announced a clinical research study with Radboud University Medical Center, or Radboudumc, to explore genetic causes of rare and genetic diseases. Together with Radboud’s Department of Human Genetics, which is one of the largest academic centers for human genetics in Europe, PacBio aims to uncover genetic origins of rare and genetic diseases. The study will also explore the feasibility and cost effectiveness of using PacBio’s HiFi sequencing technology as part of routine clinical use. Radboudumc scientists are taking on the challenge of solving some of the most puzzling cases of undiagnosed rare diseases using PacBio’s HiFi long-read sequencing technology for whole genome sequencing, or WGS. Despite having undergone all standard-of-care methods, including short-read sequencing, these individuals still need answers. By studying the potential consolidation of standard molecular tests into a clinical workflow with PacBio HiFi WGS, the project aims to explore PacBio’s technology as a potential first-line assay, which could pave the way for a more efficient and effective diagnostic process in the future. The comprehensiveness of HiFi genomes was also shown in a pilot study for this collaboration that was just published in the journal of Genome Medicine.