Development of a comprehensive noninvasive prenatal test

Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40...

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Détails bibliographiques
Publié dans:Genet Mol Biol
Auteurs principaux: Malcher, Carolina, Yamamoto, Guilherme L., Burnham, Philip, Ezquina, Suzana A.M., Lourenço, Naila C.V., Balkassmi, Sahilla, Antonio, David S. Marco, Hsia, Gabriella S.P., Gollop, Thomaz, Pavanello, Rita C., Lopes, Marco Antonio, Bakker, Egbert, Zatz, Mayana, Bertola, Débora, Vlaminck, Iwijn De, Passos-Bueno, Maria Rita
Format: Artigo
Langue:Inglês
Publié: Sociedade Brasileira de Genética 2018
Sujets:
Human and Medical Genetics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6136382/
https://ncbi.nlm.nih.gov/pubmed/30043834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2017-0177
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