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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675748/
https://www.ncbi.nlm.nih.gov/pubmed/28518170
http://dx.doi.org/10.1038/gim.2017.33

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675748/
https://www.ncbi.nlm.nih.gov/pubmed/28518170
http://dx.doi.org/10.1038/gim.2017.33

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