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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書誌詳細
出版年:Genet Mol Biol
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Sociedade Brasileira de Genética 2018
主題:
Human and Medical Genetics
オンライン･アクセス: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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