Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations, Published online: 26 March 2018; doi:10.1038/nrg.2017.117

Despite the remarkable throughput of next-generation sequencing technologies, standard techniques are limited by the difficulty in distinguishing sequencing errors from genuine low-frequency DNA variants within heterogeneous cellular or molecular populations. This Review discusses sequencing methodologies and bioinformatic strategies that have been devised for the reliable detection of rare mutations and describes various important applications in diverse fields including cancer, ageing and metagenomics.

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