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

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...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Shi, L., Webb, B.D., Birch, A.H., Elkhoury, L., McCarthy, J., Cai, X., Oishi, K., Mehta, L., Diaz, G.A., Edelmann, L., Kornreich, R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5237408/
https://ncbi.nlm.nih.gov/pubmed/27415407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12834
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