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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
Autores principales: Karki, Roshan, Pandya, Deep, Elston, Robert C., Ferlini, Cristiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502642/
https://www.ncbi.nlm.nih.gov/pubmed/26173390
http://dx.doi.org/10.1186/s12920-015-0115-z