Additional file 2 of Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA
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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.
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2025-12-04



