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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136382/ https://www.ncbi.nlm.nih.gov/pubmed/30043834 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0177 |
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