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-Reference-Cited by-同舟云学术

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

Published:2024-07 Issue:7 Volume:14 Page:
ISSN:2001-1326
Container-title:Clinical and Translational Medicine
language:en
Short-container-title:Clinical & Translational Med

Author:

Qian Yeqing¹²,Zhu Jianjun³,Tang Zhiguo⁴,Sun Yan⁵,Wang Zhonghua⁶,Tang Fei⁶,Yang Yun⁷,Fan Linlin⁶,Sun Yixi¹²,Liu Bei¹²,Chen Min¹²,Luo Yuqin¹²,Hu Junjie¹²,Yan Kai¹²,Man Jianfen⁷,Wang Lina⁷,Jia Cangcang⁷,Tang Ping³,Zhu Xinyi³,Wang Chaohong⁸,Tang Junxiang⁸,Xia Yuanyuan⁸,Guo Xueqin⁷,Zhang Kang⁷,Wang Xiaoli⁹,Li Suping³,Song Lijie⁶¹⁰,Zhu Jiansheng⁸,Dong Minyue¹²^ORCID

Affiliation:

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

Funder

National Key Research and Development Program of China

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ctm2.1752

Reference10 articles.

1. Accurate detection of clinically relevant uniparental disomy from exome sequencing data

2. Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

3. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges

4. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy

5. Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis