A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Abstract Rare diseases affect 30 million people in the USA and more than 300–400 million worldwide, often causing chronic illness, disability, and premature death. Traditional diagnostic techniques rely heavily on heuristic approaches, coupling clinical experience from prior rare disease presentatio...
Guardat en:
| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2022-02-01
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| Col·lecció: | Genome Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13073-022-01026-w |
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