ChromInst: a multicentre evaluation of robustness in aneuploidy and structural rearrangement testing

ChromInst-based PGT-A/-SR could accommodate operational variations among different clinical centres, ensuring accurate results through robust and stable detection performance. Prior to PGT-A/-SR, more trustworthy data could be provided to support the genetic counselling.

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Publication Details

Journal
Journal of Translational Medicine
Published
2025-02-26
DOI
https://doi.org/10.1186/s12967-025-06242-7
Citations
1
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
3.49
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article

ChromInst: a multicentre evaluation of robustness in aneuploidy and structural rearrangement testing

Yao He, Keya Tong, Dongyun Liu, Linli Hu et al.
1 citations
Journal of Translational Medicine
Prenatal Screening and Diagnostics
3.49
article

ChromInst: a multicentre evaluation of robustness in aneuploidy and structural rearrangement testing

Yao He, Keya Tong, Dongyun Liu, Linli Hu, Yifan Zhou, Haixia Jin, Yingpu Sun, Shanjun Dai, Dunmei Zhao, Wenbin Niu, Guidong Yao, Haiyan Bai, Yaxin Yao, Fenghua Liu, Lei Jin, Dun Liu, Senlin Shi, Li Wu, Xiqian Zhang, Xue Xia, Sijia Lu, Tian Li
article en
1 citations

Abstract

ChromInst-based PGT-A/-SR could accommodate operational variations among different clinical centres, ensuring accurate results through robust and stable detection performance. Prior to PGT-A/-SR, more trustworthy data could be provided to support the genetic counselling.

Journal of Translational MedicineVol. 23(1)
Northwest Women's and Children's Hospital (CN), Sinotech Genomics (China) (CN), Guangdong Province Women and Children Hospital (CN), First Affiliated Hospital of Zhengzhou University (CN), Children's Hospital of Chongqing Medical University (CN), Tongji Hospital (CN), Huazhong University of Science and Technology (CN), Chongqing Medical University (CN)
Good health and well-being
Openalex Percentile: Top 12%
Prenatal Screening and Diagnostics
3.49
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