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Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics

We recently demonstrated noninvasive detection of fetal aneuploidy by shotgun sequencing cell-free DNA in maternal plasma using next-generation high throughput sequencer. However, GC bias introduced by the sequencer placed a practical limit on the sensitivity of aneuploidy detection. In this study,...

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Hlavní autoři: Fan, H. Christina, Quake, Stephen R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862719/
https://ncbi.nlm.nih.gov/pubmed/20454671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0010439
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