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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… Click to show full 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 impact of postnatal phenotyping on genetic diagnosis.
Keywords:
yield whole;
whole exome;
diagnostic yield;
exome data;
data fetuses;
exome
Journal Title: Prenatal Diagnosis
Year Published: 2022
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Journal Title: Prenatal Diagnosis
Year Published: 2022
Link to full text (if available)
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recommendations!