A new approach for detecting low-level mutations in next-generation sequence data

作者：Li Mingkun^*; Stoneking Mark

来源：Genome Biology, 2012, 13(5): R34.

DOI：10.1186/gb-2012-13-5-r34

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 500x, 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.

• 出版日期2012