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.


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.


A panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.


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.

Genet Med 18 5, 522–528.

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We thank Eli Balshan and Michael Groden for assistance with annotation. We acknowledge financial support from the Human Frontier Science Program (S.C.); NIH research grants AG042188 (G.A.); DK62429, DK062422, and DK092235 (J.H.C.); NS050487 and NS060113 (L.N.C.); AG021654 and AG027734 (N.B.); MH089964, MH095458, and MH084098 (T.L.), and CA121852 (computational infrastructure, IPe’er); NSF research grants 08929882 and 0845677 (IPe’er); the Rachel and Louis Rudin Foundation (H.O.); the North Shore–LIJ Health System Foundation (T.L.); the New York Crohn’s Foundation (IPeter); the Parkinson’s Disease Foundation (L.N.C.); the Sharon Levine Corzine Cancer Research Fund (K.O.); and the Andrew Sabin Family Research Fund (K.O.) and whole-exome sequence data from the T2D-GENES Consortium.

Author information

Author notes

    • Brett Baskovich
    • , Susan Hiraki
    •  & Kinnari Upadhyay

    B.B. is the first author. S.H. and K.U. are co-first authors.


  1. Department of Pathology, Montefiore Medical Center, New York, New York, USA

    • Brett Baskovich
    • , Harry Ostrer
    •  & Carole Oddoux
  2. Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA

    • Susan Hiraki
    • , Kinnari Upadhyay
    • , Philip Meyer
    • , Nir Barzilai
    • , Gil Atzmon
    • , Harry Ostrer
    •  & Carole Oddoux
  3. The Faculty of Medicine, Braun School of Public Health, Hebrew University of Jerusalem, Jerusalem, Israel

    • Shai Carmi
  4. Department of Genetics, Hebrew University of Jerusalem, Givat Ram, Jerusalem

    • Ariel Darvasi
  5. Department of Genetics, Icahn School of Medicine at Mount Sinai School of Medicine, New York, New York, USA

    • Laurie Ozelius
    • , Inga Peter
    •  & Judy H. Cho
  6. Faculty of Natural Science, University of Haifa, Haifa, Israel

    • Gil Atzmon
  7. Department of Pathology, Columbia University, New York, New York, USA

    • Lorraine Clark
  8. The Feinstein Institute for Medical Research, Manhasset, New York, USA

    • Jin Yu
    •  & Todd Lencz
  9. Department of Computer Science, Columbia University, New York, New York, USA

    • Itsik Pe’er


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Correspondence to Harry Ostrer.

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