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Computational approaches to interpreting genomic sequence variation
Identifying sequence variants that play a mechanistic role in human disease and other phenotypes is a fundamental goal in human genetics and will be important in translating the results of variation studies. Experimental validation to confirm that a variant causes the biochemical changes responsible...
Autores principales: | Ritchie, Graham RS, Flicek, Paul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254438/ https://www.ncbi.nlm.nih.gov/pubmed/25473426 http://dx.doi.org/10.1186/s13073-014-0087-1 |
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