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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Article
Mynediad Ar-lein: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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