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Systematic errors in annotations of truncations, loss-of-function and synonymous variants
Description of genetic phenomena and variations requires exact language and concepts. Vast amounts of variation data are produced with next-generation sequencing pipelines. The obtained variations are automatically annotated, e.g., for their functional consequences. These tools and pipelines, along...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880313/ https://www.ncbi.nlm.nih.gov/pubmed/36713076 http://dx.doi.org/10.3389/fgene.2023.1015017 |