# 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

**Authors:** 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

PMC · DOI: 10.1002/ctm2.1752 · Clinical and Translational Medicine · 2024-07-04

## Full-text entities

- **Diseases:** AOH (MESH:D004832), CMA (MESH:D025063), structural abnormalities (MESH:C566527), autosomal recessive disease (MESH:D030342)
- **Chemicals:** LP GS (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Cell lines:** S2 — Drosophila melanogaster (Fruit fly), Spontaneously immortalized cell line (CVCL_Z232)

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## References

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Source: https://tomesphere.com/paper/PMC11223989