Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges

PURPOSE: We investigated the diagnostic and clinical performance of exome sequencing (ES) in fetuses with sonographic abnormalities with normal karyotype, microarray and, in some cases, normal gene specific sequencing. METHODS: ES was performed from DNA of 15 anomalous fetuses and from peripheral bl...

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Publicado en:Genet Med
Main Authors: Vora, Neeta L., Powell, Bradford, Brandt, Alicia, Strande, Natasha, Hardisty, Emily, Gilmore, Kelly, Foreman, Ann Katherine M., Wilhelmsen, Kirk, Bizon, Chris, Reilly, Jason, Owen, Phil, Powell, Cynthia M., Skinner, Debra, Rini, Christine, Lyerly, Anne D., Boggess, Kim A., Weck, Karen, Berg, Jonathan S., Evans, James P.
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5675748/
https://ncbi.nlm.nih.gov/pubmed/28518170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.33
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