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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
A new approach for detecting low-level mutations in next-generation sequence data
1Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D04103, Leipzig, Germany. mingkun_li@eva.mpg.de
Genome Biology
|May 25, 2012
Abstract:
We propose a new method that incorporates population re-sequencing data, distribution of reads, and strand bias in detecting low-level mutations. The method can accurately identify low-level mutations down to a level of 2.3%, with an average coverage of 500×, and with a false discovery rate of less than 1%. In addition, we also discuss other problems in detecting low-level mutations, including chimeric reads and sample cross-contamination, and provide possible solutions to them.
