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The Importance of Biologic Knowledge and Gene Expression Context for Genomic Data Interpretation
Background: Genomic sequencing, including whole exome sequencing (WES), is enabling a higher resolution for defining diseases, understand mechanisms, and improving the practice of clinical care. However, WES routinely identifies genomic variants with uncertain functional effects. Furthering uncertai...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305277/ https://www.ncbi.nlm.nih.gov/pubmed/30619486 http://dx.doi.org/10.3389/fgene.2018.00670 |