Article
Expanded genetic screening panel for the Ashkenazi Jewish population.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2016
Baskovich Brett, Hiraki Susan, Upadhyay Kinnari, Meyer Philip, Carmi Shai, Barzilai Nir, Darvasi Ariel, Ozelius Laurie, Peter Inga, Cho Judy H, Atzmon Gil, Clark Lorraine, Yu Jin, Lencz Todd, Pe'er Itsik, Ostrer Harry, Oddoux Carole
Abstract excerpt
PURPOSE: Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other...
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