Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

@article{Shi2017ComprehensivePS,
  title={Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.},
  author={L Shi and Bryn D Webb and Ashley H. Birch and L Elkhoury and Joan McCarthy and Xiaoqiang Cai and Kimihiko Oishi and Lakshmi Mehta and G A Diaz and Lisa J. Edelmann and Ruth Kornreich},
  journal={Clinical genetics},
  year={2017},
  volume={91 4},
  pages={599-604}
}
The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease-causing founder mutations have been identified and well-characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85… CONTINUE READING