Time to make rare disease diagnosis accessible to all.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 35132266.
- Also identified by DOI 10.1038/s41591-021-01657-3 and PMC identifier 8866216.
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Abstract
Studies have demonstrated the utility of genomic analysis for rare disease diagnosis, yet accessibility is still in its infancy; global data sharing will be needed to further advance our knowledge of all causes of rare disease.
Medical subject headings
- Delivery of Health Care
- Rare Diseases