With the booming of next generation sequencing technology and its implementation in clinical practice and life science research, the need for faster and more efficient data analysis methods becomes pressing in the field of sequencing. Here we report on the evaluation of an optimized germline mutation calling pipeline, HummingBird, by assessing its performance against the widely accepted BWA-GATK pipeline. We found that the HummingBird pipeline can significantly reduce the running time of the primary data analysis for whole genome sequencing and whole exome sequencing while without significantly sacrificing the variant calling accuracy. Thus, we conclude that expansion of such software usage will help to improve the primary data analysis efficiency for next generation sequencing.

中文翻译：

---

用于下一代测序的种系变异调用管道的计算性能

随着新一代测序技术的蓬勃发展及其在临床实践和生命科学研究中的应用，测序领域迫切需要更快、更高效的数据分析方法。在这里，我们通过评估其与广泛接受的 BWA-GATK 管道的性能来评估优化的生殖系突变调用管道 HummingBird。我们发现 HummingBird 管道可以显着减少全基因组测序和全外显子组测序的主要数据分析的运行时间，同时不会显着牺牲变异调用的准确性。因此，我们得出结论，扩展此类软件的使用将有助于提高下一代测序的原始数据分析效率。