Take-home: reanalysis after ~1.8 years gives a modest but clinically relevant diagnostic gain. Scalable workflows could help unresolved rare disease cases benefit from evolving genomic knowledge.
Wow!
Amazing - and first glimpses of hope for patients and families with this devastating rare disease.
www.bbc.com/news/article...
Why this matters: genome interpretation evolves over time, but fully manual reanalysis is difficult to scale in routine diagnostics. Automated prioritisation may help make periodic reanalysis more feasible.