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- W2918781409 abstract "Accurate genome-wide detection of somatic mutations with low variant allele frequency (VAF, <1%) has proven difficult, for which generalized, scalable methods are lacking. Herein, we describe a new computational method, called RePlow, that we developed to detect low-VAF somatic mutations based on simple, library-level replicates for next-generation sequencing on any platform. Through joint analysis of replicates, RePlow is able to remove prevailing background errors in next-generation sequencing analysis, facilitating remarkable improvement in the detection accuracy for low-VAF somatic mutations (up to ~99% reduction in false positives). The method is validated in independent cancer panel and brain tissue sequencing data. Our study suggests a new paradigm with which to exploit an overwhelming abundance of sequencing data for accurate variant detection." @default.
- W2918781409 created "2019-03-11" @default.
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- W2918781409 date "2019-03-05" @default.
- W2918781409 modified "2023-10-11" @default.
- W2918781409 title "The use of technical replication for detection of low-level somatic mutations in next-generation sequencing" @default.
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- W2918781409 doi "https://doi.org/10.1038/s41467-019-09026-y" @default.
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