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🔬 Scientist | PhD candidate in Biochemistry & Molecular Biology | 🧬 Genomics & Rare Diseases | Researcher @UKSH Kiel
Daniel Kaschta
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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.
Beyond diagnostic yield, the study provides practical insights for labs evaluating GS as a new first-tier standard, including the added value of inheritance information for less-experienced teams and the types of variants GS captures that SoC often misses.
Wow! Amazing - and first glimpses of hope for patients and families with this devastating rare disease. www.bbc.com/news/article...
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