Brett Baskovich1, Susan Hiraki2, Kinnari Upadhyay2, Philip Meyer2, Shai Carmi3, Nir Barzilai2, Ariel Darvasi4, Laurie Ozelius5, Inga Peter5, Judy H Cho5, Gil Atzmon2,6, Lorraine Clark7, Jin Yu8, Todd Lencz8, Itsik Pe'er9, Harry Ostrer1,2, Carole Oddoux1,2. 1. Department of Pathology, Montefiore Medical Center, New York, New York, USA. 2. Department of Pathology, Albert Einstein College of Medicine of Yeshiva University, New York, New York, USA. 3. The Faculty of Medicine, Braun School of Public Health, Hebrew University of Jerusalem, Jerusalem, Israel. 4. Department of Genetics, Hebrew University of Jerusalem, Givat Ram, Jerusalem. 5. Department of Genetics, Icahn School of Medicine at Mount Sinai School of Medicine, New York, New York, USA. 6. Faculty of Natural Science, University of Haifa, Haifa, Israel. 7. Department of Pathology, Columbia University, New York, New York, USA. 8. The Feinstein Institute for Medical Research, Manhasset, New York, USA. 9. Department of Computer Science, Columbia University, New York, New York, USA.
Abstract
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.Genet Med 18 5, 522-528.
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.Genet Med 18 5, 522-528.
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