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

Clin Transl Med. 2024 Jul;14(7):e1752. doi: 10.1002/ctm2.1752.

Yeqing Qian^{1

2}, Jianjun Zhu³, Zhiguo Tang⁴, Yan Sun⁵, Zhonghua Wang⁶, Fei Tang⁶, Yun Yang⁷, Linlin Fan⁶, Yixi Sun^{1

2}, Bei Liu^{1

2}, Min Chen^{1

2}, Yuqin Luo^{1

2}, Junjie Hu^{1

2}, Kai Yan^{1

2}, Jianfen Man⁷, Lina Wang⁷, Cangcang Jia⁷, Ping Tang³, Xinyi Zhu³, Chaohong Wang⁸, Junxiang Tang⁸, Yuanyuan Xia⁸, Xueqin Guo⁷, Kang Zhang⁷, Xiaoli Wang⁹, Suping Li³, Lijie Song^{6

10}, Jiansheng Zhu⁸, Minyue Dong^{1

2}

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.

No abstract available

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