Zhao Li, Xiaoxuan Chen, Shaoqiang Shi, Hongwei Zhang, Xi Wang, Hong Chen, Weifu Li, Lin Li

MOLECULAR PLANT，August 21 2022，DOI: https://doi.org/10.1016/j.molp.2022.08.004

【英文摘要】

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 (DL) —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-noise-ratio. Moreover, we applied DeepBSA to an F2 segregating maize population of 7,160 individuals and uncovered five candidate QTLs, including three well-known plant-height genes. Finally, we developed a user-friendly graphical user interface (GUI) for DeepBSA, integrating five widely used BSA algorithms and our two newly developed algorithms, which is easy to operate and can quickly map QTLs and functional genes. The DeepBSA software is publicly available at http://zeasystemsbio.hzau.edu.cn/tools.html.

论文链接：https://www.cell.com/molecular-plant/fulltext/S1674-2052(22)00267-2