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10.1002/mgg3.149 http://scihub22266oqcxt.onion/10.1002/mgg3.149 C4585447!4585447 !26436105     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26436105 &cmd=llinks): Failed to open stream: HTTP request failed! 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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR |pdf=|usr=}}{{26436105 }} gab.com Text Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR JO: Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=26436105 #FOAvip Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq? CFTR panel. The DNA libraries were pooled, barcoded, and sequenced using an Ion Torrent PGM sequencer. The combination of different robust bioinformatics tools allowed us to detect previously known pathogenic mutations and polymorphisms in the 177 samples, without detecting spurious pathogenic calls. In summary, the assay achieves a sensitivity of 94.45% (95% CI: 92% to 96.9%), with a specificity of detecting nonvariant sites from the CFTR reference sequence of 100% (95% CI: 100% to 100%), a positive predictive value of 100% (95% CI: 100% to 100%), and a negative predictive value of 99.99% (95% CI: 99.99% to 100%). In addition, we describe the observed allelic frequencies of 94 unique definitely and likely pathogenic, uncertain, and neutral CFTR variants, some of them not previously annotated in the public databases. Strikingly, a seven exon spanning deletion as well as several more technically challenging variants such as pathogenic poly-thymidine-guanine and poly-thymidine (poly-TG-T) tracts were also detected. Targeted NGS is ready to substitute classical molecular methods to perform genetic testing on the CFTR gene. Twit Text FOAVip Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR ????Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=26436105 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26436105 #FOAvip English Wikipedia <ref>{{Cite pmid|26436105 }}</ref> Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR #MMPMID26436105 Trujillano D ; Weiss ME ; Köster J ; Papachristos EB ; Werber M ; Kandaswamy KK ; Marais A ; Eichler S ; Creed J ; Baysal E ; Jaber IY ; Mehaney DA ; Farra C ; Rolfs A Mol Genet Genomic Med 2015[Sep]; 3 (5 ): 396-403 PMID26436105 show ga Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq? CFTR panel. The DNA libraries were pooled, barcoded, and sequenced using an Ion Torrent PGM sequencer. The combination of different robust bioinformatics tools allowed us to detect previously known pathogenic mutations and polymorphisms in the 177 samples, without detecting spurious pathogenic calls. In summary, the assay achieves a sensitivity of 94.45% (95% CI: 92% to 96.9%), with a specificity of detecting nonvariant sites from the CFTR reference sequence of 100% (95% CI: 100% to 100%), a positive predictive value of 100% (95% CI: 100% to 100%), and a negative predictive value of 99.99% (95% CI: 99.99% to 100%). In addition, we describe the observed allelic frequencies of 94 unique definitely and likely pathogenic, uncertain, and neutral CFTR variants, some of them not previously annotated in the public databases. Strikingly, a seven exon spanning deletion as well as several more technically challenging variants such as pathogenic poly-thymidine-guanine and poly-thymidine (poly-TG-T) tracts were also detected. Targeted NGS is ready to substitute classical molecular methods to perform genetic testing on the CFTR gene. äValidation of a semiconductor next-generation sequencing assay for the(epmc).pdf DeepDyve Pubget Overpricing