Computational Performance of a Germline Variant Calling Pipeline for Next Generation Sequencing

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 mutatio...

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Bibliographic Details
Published in:arXiv.org 2020-04
Main Authors: Liu, Jie, Wu, Xiaotian, Zhang, Kai, Liu, Bing, Bao, Renyi, Chen, Xiao, Cai, Yiran, Shen, Yiming, He, Xinjun, Yan, Jun, Ji, Weixing
Format: Article
Language:English
Subjects:
Data analysis
Gene sequencing
Mutation
Online Access:Get full text
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Summary: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.
ISSN:2331-8422