A simple consensus approach improves somatic mutation prediction accuracy.
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ABSTRACT:
SUBMITTER: Goode DL
PROVIDER: S-EPMC3978449 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Publications
A simple consensus approach improves somatic mutation prediction accuracy.
Goode David L DL Hunter Sally M SM Doyle Maria A MA Ma Tao T Rowley Simone M SM Choong David D Ryland Georgina L GL Campbell Ian G IG
Genome medicine 20130930 9
Differentiating true somatic mutations from artifacts in massively parallel sequencing data is an immense challenge. To develop methods for optimal somatic mutation detection and to identify factors influencing somatic mutation prediction accuracy, we validated predictions from three somatic mutation detection algorithms, MuTect, JointSNVMix2 and SomaticSniper, by Sanger sequencing. Full consensus predictions had a validation rate of >98%, but some partial consensus predictions validated too. In ...[more]
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