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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Vydáno v:Genet Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup: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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