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Promises, pitfalls and practicalities of prenatal whole exome sequencing

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we rev...

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Detalles Bibliográficos
Publicado en:Prenat Diagn
Autores principales: Best, Sunayna, Wou, Karen, Vora, Neeta, Van der Veyver, Ignatia B., Wapner, Ronald, Chitty, Lyn S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5745303/
https://ncbi.nlm.nih.gov/pubmed/28654730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.5102
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