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Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases
Rare diseases are usually chronically debilitating or even life-threatening with diagnostic and therapeutic challenges in current clinical practice. It has been estimated that 80% of rare diseases are genetic in origin, and thus genome sequencing-based diagnosis offers a promising alternative for ra...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920370/ https://www.ncbi.nlm.nih.gov/pubmed/31852928 http://dx.doi.org/10.1038/s41598-019-55832-1 |