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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics
Approximately 400 million people throughout the world suffer from a rare disease. Although advances in whole exome and whole genome sequencing have greatly facilitated rare disease diagnosis, overall diagnostic rates remain below 50%. Furthermore, in cases where accurate diagnosis is achieved the pr...
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| Publicado no: | Mol Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7691058/ https://ncbi.nlm.nih.gov/pubmed/33238891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s10020-020-00244-5 |
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