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Detection and Impact of Rare Regulatory Variants in Human Disease

Advances in genome sequencing are providing unprecedented resolution of rare and private variants. However, methods which assess the effect of these variants have relied predominantly on information within coding sequences. Assessing their impact in non-coding sequences remains a significant contemp...

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Detalles Bibliográficos
Autores principales: Li, Xin, Montgomery, Stephen B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668132/
https://www.ncbi.nlm.nih.gov/pubmed/23755067
http://dx.doi.org/10.3389/fgene.2013.00067