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Study Description

The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.

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Trios: Maternal plasma sample, from pregnancy of male fetus, collected during first trimester. Paternal and maternal DNA sample and postnatal child DNA sample.

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Study Attribution
  • Principal Investigator
    • Jay Shendure, PhD. University of Washington, Seattle, WA, USA.
  • Funding Sources
    • 1R01HG006283-01. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.