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Linking genome variants to disease: scalable approaches to test the functional impact of human mutations
The application of genomics to medicine has accelerated the discovery of mutations underlying disease and has enhanced our knowledge of the molecular underpinnings of diverse pathologies. As the amount of human genetic material queried via sequencing has grown exponentially in recent years, so too h...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490018/ https://www.ncbi.nlm.nih.gov/pubmed/34338757 http://dx.doi.org/10.1093/hmg/ddab219 |