Expanded genetic screening panel for the Ashkenazi Jewish population | Zendy

Brett Baskovich | Zendy; Susan Hiraki | Zendy; Kinnari Upadhyay | Zendy; Philip Meyer | Zendy; Shai Carmi | Zendy; Nir Barzilai | Zendy; Ariel Darvasi | Zendy; Laurie J. Ozelius | Zendy; Inga Peter | Zendy; Judy H. Cho | Zendy; Gil Atzmon | Zendy; Lorraine N. Clark | Zendy; Jin Yu | Zendy; Todd Lencz | Zendy; Itsik Pe’er | Zendy; Harry Ostrer | Zendy; Carole Oddoux | Zendy

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Expanded genetic screening panel for the Ashkenazi Jewish population

Author(s) -

Brett Baskovich,

Susan Hiraki,

Kinnari Upadhyay,

Philip Meyer,

Shai Carmi,

Nir Barzilai,

Ariel Darvasi,

Laurie J. Ozelius,

Inga Peter,

Judy H. Cho,

Gil Atzmon,

Lorraine N. Clark,

Jin Yu,

Todd Lencz,

Itsik Pe’er,

Harry Ostrer,

Carole Oddoux

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.123

Subject(s) - medical genetics , genetics , genomics , medicine , population , genome , mutation , incidence (geometry) , biology , gene , environmental health , physics , optics

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 conditions for which screening might be offered is unknown.

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