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Quantifying single nucleotide variant detection sensitivity in exome sequencing

BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our sensitivity to detect genuine polymorphisms. To f...

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Detalhes bibliográficos
Main Authors: Meynert, Alison M, Bicknell, Louise S, Hurles, Matthew E, Jackson, Andrew P, Taylor, Martin S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3695811/
https://ncbi.nlm.nih.gov/pubmed/23773188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-14-195
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