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Settling the score: variant prioritization and Mendelian disease
When investigating Mendelian disease using exome or genome sequencing, distinguishing disease-causing genetic variants from the multitude of candidate variants is a complex, multidimensional task. Many prioritization tools and online interpretation resources exist, and professional organizations hav...
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| Veröffentlicht in: | Nat Rev Genet |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5935497/ https://ncbi.nlm.nih.gov/pubmed/28804138 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrg.2017.52 |
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