Expanded genetic screening panel for the Ashkenazi Jewish population

Brett Baskovich, Susan Hiraki, Kinnari Upadhyay, Philip Meyer, Shai Carmi, Nir Barzilai, Ariel Darvasi, Laurie Ozelius, Inga Peter, Judy H. Cho, Gil Atzmon, Lorraine Clark, Jin Yu, Todd Lencz, Itsik Pe'Er, Harry Ostrer, Carole Oddoux

Research output: Contribution to journalArticlepeer-review


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 conditions for which screening might be offered is unknown.Methods:Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review.Results:A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.Conclusion:Screening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.

Original languageEnglish
Pages (from-to)522-528
Number of pages7
JournalGenetics in Medicine
Issue number5
StatePublished - 1 May 2016

Bibliographical note

Publisher Copyright:
© American College of Medical Genetics and Genomics.

ASJC Scopus subject areas

  • Genetics(clinical)


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