This meeting will focus on practical approaches to phenotyping and diagnosis in undiagnosed conditions, including how to define next steps when a diagnosis remains uncertain, and how to strengthen pathways and collaboration around undiagnosed care.
Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
The Solve-RD consortium demonstrates how structured multidisciplinary “Solvathons” can address the growing complexity of advanced omics diagnostics and improve collaborative rare disease diagnosis.
