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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Publié dans:Genet Med
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2017
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Article
Accès en ligne: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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