论文标题
下一代测序的种系变体呼叫管道的计算性能
Computational Performance of a Germline Variant Calling Pipeline for Next Generation Sequencing
论文作者
论文摘要
随着下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实施，对更快，更有效的数据分析方法的需求变得在测序领域中迫在眉睫。在这里，我们通过评估广泛接受的BWA-GATK管道评估其性能，报告对优化种系突变呼叫管道（Hummingbird）的评估。我们发现，蜂鸟管道可以显着减少用于整个基因组测序和整个外显子组测序的主要数据分析的运行时间，同时却没有显着牺牲变体调用精度。因此，我们得出的结论是，此类软件使用的扩展将有助于提高下一代测序的主要数据分析效率。
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.
