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Non-invasive whole genome sequencing of a human fetus

Analysis of cell-free fetal DNA in maternal plasma holds great promise for the development of non-invasive prenatal genetic diagnostics. However, previous studies have been restricted to detection of fetal trisomies (1, 2) or specific, paternally inherited mutations (3), or to genotyping common poly...

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Autori principali: Kitzman, Jacob O., Snyder, Matthew W., Ventura, Mario, Lewis, Alexandra P., Qiu, Ruolan, Simmons, LaVone E., Gammill, Hilary S., Rubens, Craig E., Santillan, Donna A., Murray, Jeffrey C., Tabor, Holly K., Bamshad, Michael J., Eichler, Evan E., Shendure, Jay
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3379884/
https://ncbi.nlm.nih.gov/pubmed/22674554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3004323
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