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10.1038/gim.2017.14 http://scihub22266oqcxt.onion/10.1038/gim.2017.14 C5600649!5600649 !28301460     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 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 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 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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28301460 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Genet+Med 2017 ; 19 (10 ): 1096-1104 Nephropedia Template TP {{tp|p=28301460 |t=2017. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar |pdf=|usr=}}{{28301460 }} gab.com Text Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar JO: Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=28301460 #FOAvip PURPOSE: Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and reassessment resolve interpretation differences by analyzing a subset of variants. METHODS: ClinVar variants with submissions from at least two of the four participating laboratories were compared. For a subset of identified differences, laboratories documented the basis for discordance, shared internal data, independently reassessed with the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines, and then compared interpretations. RESULTS: At least two of the participating laboratories interpreted 6,169 variants in ClinVar, of which 88.3% were initially concordant. Laboratories reassessed 242/724 initially discordant variants, of which 87.2% (211) were resolved by reassessment with current criteria and/or internal data sharing; 12.8% (31) of reassessed variants remained discordant owing to differences in the application of the ACMG-AMP guidelines. CONCLUSION: Participating laboratories increased their overall concordance from 88.3 to 91.7%, indicating that sharing variant interpretations in ClinVar-thereby allowing identification of differences and motivation to resolve those differences-is critical to moving toward more consistent variant interpretations.Genet Med advance online publication 09 March 2017. Twit Text FOAVip Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar ????Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=28301460 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28301460 #FOAvip English Wikipedia <ref>{{Cite pmid|28301460 }}</ref> Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar #MMPMID28301460 Harrison SM ; Dolinsky JS ; Knight Johnson AE ; Pesaran T ; Azzariti DR ; Bale S ; Chao EC ; Das S ; Vincent L ; Rehm HL Genet Med 2017[Oct]; 19 (10 ): 1096-1104 PMID28301460 show ga PURPOSE: Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and reassessment resolve interpretation differences by analyzing a subset of variants. METHODS: ClinVar variants with submissions from at least two of the four participating laboratories were compared. For a subset of identified differences, laboratories documented the basis for discordance, shared internal data, independently reassessed with the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines, and then compared interpretations. RESULTS: At least two of the participating laboratories interpreted 6,169 variants in ClinVar, of which 88.3% were initially concordant. Laboratories reassessed 242/724 initially discordant variants, of which 87.2% (211) were resolved by reassessment with current criteria and/or internal data sharing; 12.8% (31) of reassessed variants remained discordant owing to differences in the application of the ACMG-AMP guidelines. CONCLUSION: Participating laboratories increased their overall concordance from 88.3 to 91.7%, indicating that sharing variant interpretations in ClinVar-thereby allowing identification of differences and motivation to resolve those differences-is critical to moving toward more consistent variant interpretations.Genet Med advance online publication 09 March 2017. |Clinical Laboratory Information Systems/*standards [MESH] |Clinical Laboratory Techniques/*standards [MESH] |Databases, Genetic [MESH] |Genetic Testing/standards [MESH] |Genetic Variation/genetics [MESH] |Genome, Human/genetics [MESH] |Genomics/methods [MESH] |High-Throughput Nucleotide Sequencing/methods [MESH] |Humans [MESH] |Information Dissemination/methods [MESH] |Laboratories/standards [MESH]Clinical laboratories collaborate to resolve differences in variant (epmc).pdf DeepDyve Pubget Overpricing