PacBio, UW Medicine, Seattle Children’s collaborate to address SUDC with whole-genome sequencing
UW Medicine and Seattle Children’s will utilize PacBio’s HiFi whole-genome sequencing to investigate Sudden Unexplained Death in Childhood, aiming to enhance diagnostic accuracy and understand genetic contributors.
PacBio announced that a UW Medicine and Seattle Children’s research effort led by Danny Miller, MD, PhD, and Alexandra Keefe, MD, PhD, will employ PacBio HiFi whole-genome sequencing as the first-line approach to investigate Sudden Unexplained Death in Childhood (SUDC).
Backed by the SUDC Foundation and with in-kind support from PacBio, the project will sequence each child and their parents, prioritizing long-read HiFi data for comprehensive variant detection. Additionally, the University of Washington team will join the HiFi Solves Global Consortium, which brings together institutions around the world to study the value HiFi-based human genome sequencing may have in clinical research applications and to further our understanding of genetic diseases.
Applying HiFi sequencing as a first-tier assay is designed to consolidate and simplify the laboratory workflow especially in the context of post-mortem tissue and newborn dried blood spots as challenging sample inputs. The researchers hope to increase diagnostic yield by resolving complex variants like structural variants and tandem repeats and by including parents to elucidate de novo and inherited contributors to risk.
