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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha: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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