Article
Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics.
Human mutation - 1 Jan 2013
Chambers Philip A, Stead Lucy F, Morgan Joanne E, Carr Ian M, Sutton Kate M, Watson Christopher M, Crowe Victoria, Dickinson Helen, Roberts Paul, Mulatero Clive, Seymour Matthew, Markham Alexander F, Waring Paul M, Quirke Philip, Taylor Graham R
Abstract excerpt
We describe a sensitive technique for mutation detection using clonal sequencing. We analyzed DNA extracted from 13 cancer cell lines and 35 tumor samples and applied a novel approach to identify disease-associated somatic mutations. By matching reads against an index of known variants, noise can be dramatically reduced, enabling the detection and quantification of those variants, even when they are present at...
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