1. Adaptive parameter of standard deviation enhances the power of noninvasive prenatal screens
- Author
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Lin Liang, Qixi Wu, Xu Bing, Wang Weiwei, Li Qu, Shaowei Wang, Xiaoke Yang, Zhang Jingbo, and Guangyu Shan
- Subjects
0301 basic medicine ,DNA Copy Number Variations ,business.industry ,Obstetrics and Gynecology ,Trisomy ,030105 genetics & heredity ,Sample (graphics) ,Standard deviation ,Power (physics) ,03 medical and health sciences ,Fetus ,030104 developmental biology ,Pregnancy ,Prenatal Diagnosis ,Pediatrics, Perinatology and Child Health ,Statistics ,Humans ,Medicine ,Z-test ,Female ,business - Abstract
TraditionalIn this study, we propose an improved NIPS method, which calculates the SD in theA total of 3,219 pregnant samples have been used for validating the proposed method on detecting fetal trisomy syndromes (T13, T18, and T21), in which eight false negative (FN) samples have been corrected as true positive (TP) and eight false positive (FP) samples have been fixed as true negative (TN) with our proposed adaptive-SD method. Another 6592 samples were used to compare the two methods on detecting five recurrent fetal copy number variation (CNV) syndromes, in which the FP samples have decreased from 99 to 39.Our adaptive-SD NIPS method shows more power on detecting both trisomy syndromes and five recurrent CNVs in the pregnant samples with diverse read counts. Besides, our proposed method contributes to lower FP and FN samples than the traditional
- Published
- 2021
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