用并行化DeepVariant加速变量调用

Chih-Han Yang, Jhih-Wun Zeng, C. Liu, Shih-Hao Hung
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引用次数: 3

摘要

由于下一代测序(NGS)技术的快速发展,可以以更低的成本从数十亿个短读数中确定个体基因组的序列,这推动了医学研究和精准医学领域的发展,能够将基因组之间的突变联系起来。基因组序列的分析,特别是对变异的调用,需要大量的存储容量和计算能力,需要高速的网络来缩短处理时间。DeepVariant是一个开源软件包,它使用深度神经网络(DNN)来调用遗传变异,在一个工作站上用高性能GPU设备来加速DNN,花了四个小时完成分析。因此,我们对DeepVariant的性能进行了分析,并对代码进行了重构,通过一系列的代码优化工作来减少NGS管道的时间和成本。因此,我们的分布式版本DeepVariant可以在8个双cpu节点和8个gpu上在8分钟内完成相同的工作,优于市场上的商业版本。
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Accelerating Variant Calling with Parallelized DeepVariant
Due to the rapid evolution of the next-generation sequencing (NGS) technology, the sequence of an individual's genome can be determined from billions of short reads at a decreasing cost, which has advanced the fields of medical research and precision medicine with the ability to correlate mutations between genomes. Analysis of genome sequences, especially variant calling, is exceedingly computationally intensive, as it demands large storage capacity, computing power, and high-speed network to reduce the processing time. In the case of DeepVariant, an open-source software package which employs a deep neural network (DNN) to calls genetic variants, it took four hours to complete the analysis on a workstation with a high-performance GPU device to accelerate the DNN. Therefore, we profiled the performance of DeepVariant and refactored the code to reduce the time and cost of the NGS pipeline with a series of code optimization works. As a result, our distributed version of DeepVariant can finish the same job within 8 minutes on 8 dual-CPU nodes and 8 GPUs, which outperforms commercial versions in the market.
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