Supplementary Materials

Supplementary Material for:

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

Y. M. Dennis Lo,* K. C. Allen Chan, Hao Sun, Eric Z. Chen, Peiyong Jiang, Fiona M. F. Lun, Yama W. Zheng, Tak Y. Leung, Tze K. Lau, Charles R. Cantor, Rossa W. K. Chiu

*To whom correspondence should be addressed. E-mail: loym{at}

Published 8 December 2010, Sci. Transl. Med. 2, 61ra91 (2010)
DOI: 10.1126/scitranslmed.3001720

This PDF file includes:

  • Fig. S1. Predicted coverage of fetal alleles against number of sequenced reads produced.
  • Fig. S2. Correlation between depth of coverage and GC content in 1-Mb windows (A) for the whole genome and (B) within individual chromosomes.
  • Fig. S3. Size distribution of fetal and total DNA fragments in maternal plasma for individual chromosomes.
  • Fig. S4. List of sequenced reads showing wild-type sequences for codons 41/42 of HBB.
  • Table S1. The number and proportion of SNPs in different categories for the studied family.
  • Table S2. Detection rates of different categories of SNPs in maternal plasma.
  • Table S3. RHDO analysis for chromosome 1.
  • Table S4. RHDO analysis for chromosome 22.
  • Table S5. RHDO analysis for chromosome 1, which includes two artificial recombinations at positions 163,000,000 and 204,815,000.
  • Table S6. RHDO analysis for chromosome 22 including an artificial recombination site located at 34,835,000.
  • Table S7. RHDO analysis for the maternal mutation in the HBB gene

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