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Establishing and validating regulatory regions for variant annotation and expression analysis

BACKGROUND: The regulatory effect of inherited or de novo genetic variants occurring in promoters as well as in transcribed or even coding gene regions is gaining greater recognition as a contributing factor to disease processes in addition to mutations affecting protein functionality. Thousands of...

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Detalles Bibliográficos
Autores principales:	Kaplun, Alexander, Krull, Mathias, Lakshman, Karthick, Matys, Volker, Lewicki, Birgit, Hogan, Jennifer D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Methodology Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928138/ https://www.ncbi.nlm.nih.gov/pubmed/27357948 http://dx.doi.org/10.1186/s12864-016-2724-0

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