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Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq

Whole-genome resequencing is still a costly method to detect genetic mutations that lead to altered forms of proteins and may be associated with disease development. Since the majority of disease-related single nucleotide variations (SNVs) are found in protein-coding regions, we propose to identify...

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Detalles Bibliográficos
Autores principales: Chepelev, Iouri, Wei, Gang, Tang, Qingsong, Zhao, Keji
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760790/
https://www.ncbi.nlm.nih.gov/pubmed/19528076
http://dx.doi.org/10.1093/nar/gkp507

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