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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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2018
Materias:
Human and Medical Genetics
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

Internet

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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