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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...

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Detalles Bibliográficos
Autores principales: Ritchie, Graham RS, Flicek, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
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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