Additional file 1 of Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA

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Additional file 1: Supporting fig S1-S13. Fig. S1. The workflow of this study. Fig. S2. Theoretical recall values for different variant frequencies and sequencing depths. Fig. S3. The sequencing depth for cell-free DNA and genomic DNA in this study. Fig. S4. Distribution of fetal fraction at different gestational ages in this study. Fig. S5. Maternal recombination in the GJB2 gene region affects the inference of fetal haplotypes in fam8. Fig. S6. Analysis of meiotic recombination events. Fig. S7. Number of informative SNPs for paternal and maternal haplotypes per 4-Mb genomic window. Fig. S8. CNV profiles for eight microdeletion/microduplication syndrome cases. Fig. S9. Quality-Controlframework for HaploNIPD. Fig. S10. Distribution of fetal fraction in samples collected between 8 and 12 weeks of gestation in our internal cohort. Fig. S11. Concordance of recombination breakpoints in our cohort with established hotspots. Fig. S12. Number of suitable SNPs in 1000 Genomes Project populations based on SNP selection criteria in this study. Fig. S13. Effect of SNP numbers on haplotype accuracy by downsampling simulation.

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