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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...
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| Veröffentlicht in: | Sci Rep |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group UK
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5647373/ https://ncbi.nlm.nih.gov/pubmed/29044180 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-13841-y |
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