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Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting
Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the volume and complexity of genetic variation. A number of methods integrate patient phenotype an...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647373/ https://www.ncbi.nlm.nih.gov/pubmed/29044180 http://dx.doi.org/10.1038/s41598-017-13841-y |