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Defining “mutation” and “polymorphism” in the era of personal genomics

BACKGROUND: The growing advances in DNA sequencing tools have made analyzing the human genome cheaper and faster. While such analyses are intended to identify complex variants, related to disease susceptibility and efficacy of drug responses, they have blurred the definitions of mutation and polymor...

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Detalles Bibliográficos
Publicado en:BMC Med Genomics
Main Authors: Karki, Roshan, Pandya, Deep, Elston, Robert C., Ferlini, Cristiano
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4502642/
https://ncbi.nlm.nih.gov/pubmed/26173390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-015-0115-z
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