Up to half of rare disease cases stay unsolved after standard testing.
This whitepaper reviews the published studies that ran HiFi long-read sequencing in rare disease research — including cohorts short-read testing had left unsolved — and reports what each one found.
Your download includes:
✔ Six featured cohort studies — from the pan-European Solve-RD program to pediatric and neurodevelopmental cohorts
✔ Twelve further studies — multi-center evaluation, analytical validation, chromosomal rearrangements, inversions and retinal dystrophies
✔ A variant-class comparison — what one HiFi genome detects, set beside karyotype, microarray, exome and short-read genome approaches (Table 1)
✔ Assay consolidation — where one genome did the work several targeted assays used to do
✔ Methylation from the same reads — epigenetic information with no additional library prep
✔ The rare disease toolbox — the analysis tools and methods the studies used (Table 2)