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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing...

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Main Authors: Fan, H. Christina, Blumenfeld, Yair J., Chitkara, Usha, Hudgins, Louanne, Quake, Stephen R.
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2008
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2562413/
https://ncbi.nlm.nih.gov/pubmed/18838674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0808319105
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