Article
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
PloS one - 1 Jan 2015
Contini Elisa, Paganini Irene, Sestini Roberta, Candita Luisa, Capone Gabriele Lorenzo, Barbetti Lorenzo, Falconi Serena, Frusconi Sabrina, Giotti Irene, Giuliani Costanza, Torricelli Francesca, Benelli Matteo, Papi Laura
Abstract excerpt
The accurate detection of low-allelic variants is still challenging, particularly for the identification of somatic mosaicism, where matched control sample is not available. High throughput sequencing, by the simultaneous and independent analysis of thousands of different DNA fragments, might overcome many of the limits of traditional methods, greatly increasing the sensitivity. However, it is necessary to take...
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