Additional file 2 of Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA

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Authors: Lanlan Zhang, Renyi Hua, Yiming Wu, Xu Han, Yi Wu, Hongjun Fei, Xinrong Zhao, Chunxin Chang, Li Gao, Yiyao Chen, Hui Xu, Niu Li
+4 more Jingmin Yang, Yanlin Wang, Jian Wang, Shuyuan Li
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Abstract

Additional file 2: Supporting tables S1-S6. Table S1. List of targeted genes in HaploNIPD panel. Table S2. Categorization of informative SNPs for proband-assisted haplotype phasing mode. Table S3. Categorization of informative SNPs for relative-assisted haplotype phasing mode. Table S4. Clinical information and HaploNIPD results of 14 aneuploidy plasma samples enrolled in this study. Table S5. Performance of HaploNIPD for CNV detection. Table S6. Comparison of previous genome-wide NIPT-M studies and HaploNIPD in this study.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Cancer Genomics and Diagnostics

Publication details

Journal / source
Figshare
Publication date
1 January 2026
Document type
Dataset