Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal re...

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Publicado no:Sci Rep
Main Authors: Chang, Mun Young, Kim, Ah Reum, Kim, Min Young, Kim, Soyoung, Yoon, Jinsun, Han, Jae Joon, Ahn, Soyeon, Kang, Changsoo, Choi, Byung Yoon
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5141438/
https://ncbi.nlm.nih.gov/pubmed/27924908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep37153
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