Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations
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DOI: 10.1002/pd.6147
Abstract: We investigated a custom congenital heart disease (CHD) geneset to assess the diagnostic value of whole‐exome sequencing (WES) in karyotype‐ and copy number variation (CNV)‐negative aborted fetuses with conotruncal defects (CTDs), and to explore the… read more here.
Keywords: yield whole; whole exome; diagnostic yield; exome data ... See more keywords