Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
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DOI: 10.1002/pd.5522
Abstract: Recently published studies have shown the feasibility of whole exome sequencing (WES) in prenatal diagnosis. As WES is not yet routinely implemented in all cases of fetal anomalies, discussions arise on which fetuses should be… read more here.
Keywords: phenotype; select fetuses; diagnosis; fetuses prenatal ... See more keywords
Considerations for whole exome sequencing unique to prenatal care
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DOI: 10.1007/s00439-019-02085-7
Abstract: Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for… read more here.
Keywords: exome sequencing; considerations whole; wes; whole exome ... See more keywords