Article
Representing genetic variation with synthetic DNA standards.
Nature methods - 1 Sept 2016
Deveson Ira W, Chen Wendy Y, Wong Ted, Hardwick Simon A, Andersen Stacey B, Nielsen Lars K, Mattick John S, Mercer Tim R
Abstract excerpt
The identification of genetic variation with next-generation sequencing is confounded by the complexity of the human genome sequence and by biases that arise during library preparation, sequencing and analysis. We have developed a set of synthetic DNA standards, termed 'sequins', that emulate human genetic features and constitute qualitative and quantitative spike-in controls for genome sequencing. Sequencing...
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