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Identification of single nucleotide variants using position-specific error estimation in deep sequencing data

BACKGROUND: Targeted deep sequencing is a highly effective technology to identify known and novel single nucleotide variants (SNVs) with many applications in translational medicine, disease monitoring and cancer profiling. However, identification of SNVs using deep sequencing data is a challenging c...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Kleftogiannis, Dimitrios, Punta, Marco, Jayaram, Anuradha, Sandhu, Shahneen, Wong, Stephen Q., Gasi Tandefelt, Delila, Conteduca, Vincenza, Wetterskog, Daniel, Attard, Gerhardt, Lise, Stefano
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6679440/
https://ncbi.nlm.nih.gov/pubmed/31375105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0557-9
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