Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases

Yeqing Qian; Jianjun Zhu; Zhiguo Tang; Yan Sun; Zhonghua Wang; Fei Tang; Yun Yang; Linlin Fan; Yixi Sun; Bei Liu; Min Chen; Yuqin Luo; Junjie Hu; Kai Yan; Jianfen Man; Lina Wang; Cangcang Jia; Ping Tang; Xinyi Zhu; Chaohong Wang; Junxiang Tang; Yuanyuan Xia; Xueqin Guo; Kang Zhang; Xiaoli Wang; Suping Li; Lijie Song; Jiansheng Zhu; Minyue Dong

doi:10.1002/ctm2.1752

Clinical and Translational Medicine ›› 2024, Vol. 14 ›› Issue (7) : e1752 DOI: 10.1002/ctm2.1752

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Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases

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¹. Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China

². Key Laboratory of Reproductive Genetics, Ministry of Education, School of Medicine, Zhejiang University, Hangzhou, China

³. Department of Fetal Medical Center, Jiaxing Maternity and Children Health Care Hospital, Jiaxing University, Jiaxing, China

⁴. Andrological Medicine, Maternity and Child Health Hospital of Anhui Province, Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China

⁵. BGI Genomics, Shenzhen, China

⁶. Clin Lab, BGI Genomics, Tianjin, China

⁷. Clin Lab, BGI Genomics, Wuhan, China

⁸. Medical Genetics Center, Maternity and Child Health Hospital of Anhui Province, Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China

⁹. Clin Lab, BGI Genomics, Shenzhen, China

¹⁰. DTU Bioengineering, Technical University of Denmark, 2800 Kongens Lyngby, Denmark

lilly2007@126.com

songlijie@bgi.com

593130772@qq.com

dongmy@zju.edu.cn

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Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Fei Tang, Yun Yang, Linlin Fan, Yixi Sun, Bei Liu, Min Chen, Yuqin Luo, Junjie Hu, Kai Yan, Jianfen Man, Lina Wang, Cangcang Jia, Ping Tang, Xinyi Zhu, Chaohong Wang, Junxiang Tang, Yuanyuan Xia, Xueqin Guo, Kang Zhang, Xiaoli Wang, Suping Li, Lijie Song, Jiansheng Zhu, Minyue Dong. Validation and depth evaluation of recurrent neural network-based ultra low-pass genome sequencing for the detection of absence of heterozygosity: A multi-centre study of 409 cases. Clinical and Translational Medicine, 2024, 14(7): e1752 DOI:10.1002/ctm2.1752

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2024 The Author(s). Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.