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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691058/ https://www.ncbi.nlm.nih.gov/pubmed/33238891 http://dx.doi.org/10.1186/s10020-020-00244-5 |