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An efficient pipeline for ancient DNA mapping and recovery of endogenous ancient DNA from whole‐genome sequencing data
Authors:Wenhao Xu  Yu Lin  Keliang Zhao  Haimeng Li  Yinping Tian  Jacob Njaramba Ngatia  Yue Ma  Sunil Kumar Sahu  Huabing Guo  Xiaosen Guo  Yan Chun Xu  Huan Liu  Karsten Kristiansen  Tianming Lan  Xinying Zhou
Abstract:Ancient DNA research has developed rapidly over the past few decades due to improvements in PCR and next‐generation sequencing (NGS) technologies, but challenges still exist. One major challenge in relation to ancient DNA research is to recover genuine endogenous ancient DNA sequences from raw sequencing data. This is often difficult due to degradation of ancient DNA and high levels of contamination, especially homologous contamination that has extremely similar genetic background with that of the real ancient DNA. In this study, we collected whole‐genome sequencing (WGS) data from 6 ancient samples to compare different mapping algorithms. To further explore more effective methods to separate endogenous DNA from homologous contaminations, we attempted to recover reads based on ancient DNA specific characteristics of deamination, depurination, and DNA fragmentation with different parameters. We propose a quick and improved pipeline for separating endogenous ancient DNA while simultaneously decreasing homologous contaminations to very low proportions. Our goal in this research was to develop useful recommendations for ancient DNA mapping and for separation of endogenous DNA to facilitate future studies of ancient DNA.
Keywords:ancient DNA     BWA mem     deamination  DNA damage  genome mapping
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