Studies have demonstrated the value of genomic analysis for the diagnosis of rare diseases, but accessibility is still in its infancy; global data sharing is needed to further advance our knowledge of all causes of rare disease.
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Rehm, H.L. Time to make rare disease diagnosis accessible to all. Nat Med 28, 241–242 (2022). https://doi.org/10.1038/s41591-021-01657-3
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DOI: https://doi.org/10.1038/s41591-021-01657-3
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