DeepBSA: A deep-learning algorithm improves bulked segregant analysis for dissecting complex traits.

Journal: Molecular plant
PMID:

Abstract

Bulked segregant analysis (BSA) is a rapid, cost-effective method for mapping mutations and quantitative trait loci (QTLs) in animals and plants based on high-throughput sequencing. However, the algorithms currently used for BSA have not been systematically evaluated and are complex and fallible to operate. We developed a BSA method driven by deep learning, DeepBSA, for QTL mapping and functional gene cloning. DeepBSA is compatible with a variable number of bulked pools and performed well with various simulated and real datasets in both animals and plants. DeepBSA outperformed all other algorithms when comparing absolute bias and signal-to-noise ratio. Moreover, we applied DeepBSA to an F segregating maize population of 7160 individuals and uncovered five candidate QTLs, including three well-known plant-height genes. Finally, we developed a user-friendly graphical user interface for DeepBSA, by integrating five widely used BSA algorithms and our two newly developed algorithms, that is easy to operate and can quickly map QTLs and functional genes. The DeepBSA software is freely available to non-commercial users at http://zeasystemsbio.hzau.edu.cn/tools.html and https://github.com/lizhao007/DeepBSA.

Authors

  • Zhao Li
    Research Center for Data Hub and Security, Zhejiang Lab, Hangzhou, China. lzjoey@gmail.com.
  • Xiaoxuan Chen
    State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, China.
  • Shaoqiang Shi
    National Key Laboratory of Crop Genetic Improvement, Huazhong Agricultural University, Wuhan 430070, China.
  • Hongwei Zhang
    Jiangsu Provincial Key Laboratory for TCM Evaluation and Translational Development, China Pharmaceutical University, Nanjing, Jiangsu 211198, China.
  • Xi Wang
    School of Information, Central University of Finance and Economics, Beijing, China.
  • Hong Chen
    Department of Nephrology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
  • Weifu Li
  • Lin Li
    Department of Medicine III, LMU University Hospital, LMU Munich, Munich, Germany.