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Objective
To evaluate the utility of clinical exome sequencing (ES)‐based carrier screening in Chinese consanguineous couples.
Methods
Consanguineous couples were screened for autosomal recessive (AR) disorders using the clinical ES of 5000 genes associated with human diseases.
Results
We recruited 14 couples who elected to have sequencing. One couple was related as first cousins and 13 as second...
Objective
The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.
Method
Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along...
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