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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Chepelev, Iouri, Wei, Gang, Tang, Qingsong, Zhao, Keji
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2009
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2760790/
https://ncbi.nlm.nih.gov/pubmed/19528076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkp507
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