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Human Disease

Next-generation sequencing of the next generation

Nature Reviews Genetics volume 12, pages 78–79 (2011)Cite this article

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The possibility of non-invasive fetal genotyping was realized when, in previous work, fetal DNA was found to constitute approximately 10% of the DNA circulating in the mother's plasma. Nevertheless, the low proportion of fetal DNA had precluded the systematic genotyping of more than a few loci. In this new study, Dennis Lo and colleagues sought to determine whether a fetal genome could be typed more extensively using next-generation sequencing. They sequenced a maternal plasma DNA sample to a depth of 65 reads per locus. SNPs sequenced in the plasma DNA population were compared to the known paternal genotype and maternal haplotype, and used to assign fetal SNPs genome-wide. This fetus was at risk of β-thalassaemia, as both parents were heterozygous carriers of independent mutant alleles of the beta haemoglobin (HBB) gene.

Analysis of the inheritance of novel paternally derived fetal alleles revealed not only that the entire fetal genome was represented in the plasma sequence reads but also that paternally derived alleles could be accurately genotyped.

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ORIGINAL RESEARCH PAPER

  1. Lo, Y. M. D. et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med. 2, 61ra91 (2010)

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  1. Darren J. Burgess
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Burgess, D. Next-generation sequencing of the next generation. Nat Rev Genet 12, 78–79 (2011). https://doi.org/10.1038/nrg2943

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