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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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Bibliografiske detaljer
Main Authors: Fan, H. Christina, Quake, Stephen R.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2010
Fag:
Online adgang: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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