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Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach

PURPOSE: To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13. METHODS: Seventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was i...

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Detalles Bibliográficos
Autores principales: Hall, Megan P., Hill, Matthew, Zimmermann, Bernhard, Sigurjonsson, Styrmir, Westemeyer, Margaret, Saucier, Jennifer, Demko, Zachary, Rabinowitz, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013011/
https://www.ncbi.nlm.nih.gov/pubmed/24805989
http://dx.doi.org/10.1371/journal.pone.0096677