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#Medsky🧪 #publichealth In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing… PDF www.nejm.org/doi/pdf/10.1...
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In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing.
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics | NEJM
www.nejm.org
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In 832 patients with rare genetic disease, a conclusive diagnosis was made for 160 patients (19.2%) with long-read genome sequencing and for 137 patients (16.5%) with standard-of-care testing. Full study results: https://nej.md/4e03ejh #ESHG2026
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NEJM.org