Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
Prenatal Diagnosis2015Vol. 35(10), pp. 1010–1017
Citations Over TimeTop 1% of 2015 papers
Suzanne Drury, Hywel Williams, Natalie Trump, C. R. Boustred, GOSGene, Nicholas Lench, Richard H. Scott, Lyn S. Chitty
Abstract
Whole exome sequencing improves prenatal diagnosis in euploid fetuses with abnormal ultrasound scans. In order to expedite interpretation of results, trio sequencing should be employed, but interpretation can still be compromised by incomplete coverage of relevant genes.
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