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Functional annotation of non-coding sequence variants
Identifying functionally relevant variants against the background of ubiquitous genetic variation is a major challenge in human genetics. For variants that fall in protein-coding regions our understanding of the genetic code and splicing allow us to identify likely candidates, but interpreting varia...
Autores principales: | Ritchie, Graham R. S., Dunham, Ian, Zeggini, Eleftheria, Flicek, Paul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015703/ https://www.ncbi.nlm.nih.gov/pubmed/24487584 http://dx.doi.org/10.1038/nmeth.2832 |
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