Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
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Author / Creator
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 and Evans, James P
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Purpose
We investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing.
Methods
Exome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Paren...
Alternative Titles
Full title
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5675748
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5675748
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.33
