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10.1038/gim.2015.123 http://scihub22266oqcxt.onion/10.1038/gim.2015.123 C4814352!4814352!26334176     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Genet+Med 2016 ; 18 (5): 522-8 Nephropedia Template TP {{tp|p=26334176|t=2016. Expanded Genetic Screening Panel for the Ashkenazi Jewish Population |pdf=|usr=}}{{26334176}} gab.com Text Expanded Genetic Screening Panel for the Ashkenazi Jewish Population JO: Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=26334176 #FOAvip 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 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 Ashkenazi Jewish genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics scoring (ACMG) system. Other known mutations were identified through literature review. Results: A panel of 203 mutations was identified for 92 autosomal recessive, 24 autosomal dominant, and 4 X-linked disorders. Conclusion: Screening for a broader range of disorders could not only further reduce the incidence of autosomal recessive disorders, but could also offer the benefits of early or presymptomatic diagnosis. Twit Text FOAVip Expanded Genetic Screening Panel for the Ashkenazi Jewish Population ????Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=26334176 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26334176 #FOAvip English Wikipedia <ref>{{Cite pmid|26334176}}</ref> Expanded Genetic Screening Panel for the Ashkenazi Jewish Population #MMPMID26334176 Baskovich B; Hiraki S; Upadhyay K; Meyer P; Carmi S; Barzilai N; Darvasi A; Ozelius L; Peter I; Cho JH; Atzmon G; Clark L; Lencz T; Pe?er I; Ostrer H; Oddoux C Genet Med 2016[May]; 18 (5): 522-8 PMID26334176show ga 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 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 Ashkenazi Jewish genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics scoring (ACMG) system. Other known mutations were identified through literature review. Results: A panel of 203 mutations was identified for 92 autosomal recessive, 24 autosomal dominant, and 4 X-linked disorders. Conclusion: Screening for a broader range of disorders could not only further reduce the incidence of autosomal recessive disorders, but could also offer the benefits of early or presymptomatic diagnosis. äExpanded Genetic Screening Panel for the Ashkenazi Jewish Population (epmc).pdf DeepDyve Pubget Overpricing