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10.1038/gim.2015.21 http://scihub22266oqcxt.onion/10.1038/gim.2015.21 C4575596!4575596!25790160     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Genet+Med 2015 ; 17 (12): 995-1001 Nephropedia Template TP {{tp|p=25790160|t=2015. A Genome Sequencing Program for Novel Undiagnosed Diseases |pdf=|usr=}}{{25790160}} gab.com Text A Genome Sequencing Program for Novel Undiagnosed Diseases JO: Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=25790160 #FOAvip Purpose: The Scripps Idiopathic Diseases of huMan (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case review. Methods: Here we describe the IDIOM study operational protocol and initial results. Results: 121 cases underwent first tier review by the principal investigators to determine if the primary inclusion criteria were satisfied, 59 (48.8%) underwent second tier review by our clinician-scientist review panel, and 17 (14.0%) patients and their family members were enrolled. 60% of cases resulted in a plausible molecular diagnosis. 18% of cases resulted in a confirmed molecular diagnosis. 2 of 3 confirmed cases led to the identification of novel gene-disease relationships. In the third confirmed case, a previously described but unrecognized disease was revealed. In all three confirmed cases, a new clinical management strategy was initiated based on the genetic findings. Conclusions: Genome sequencing provides tangible clinical benefit for individuals with idiopathic genetic disease, not only in the context of molecular genetic diagnosis of known rare conditions, but also in cases where prior clinical information regarding a new genetic disorder is lacking. Twit Text FOAVip A Genome Sequencing Program for Novel Undiagnosed Diseases ????Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=25790160 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25790160 #FOAvip English Wikipedia <ref>{{Cite pmid|25790160}}</ref> A Genome Sequencing Program for Novel Undiagnosed Diseases #MMPMID25790160 Bloss CS; Scott-Van Zeeland AA; Topol SE; Darst BF; Boeldt DL; Erikson GA; Bethel KJ; Bjork RL; Friedman JR; Hwynn N; Patay BA; Pockros PJ; Scott ER; Simon RA; Williams GW; Schork NJ; Topol EJ; Torkamani A Genet Med 2015[Dec]; 17 (12): 995-1001 PMID25790160show ga Purpose: The Scripps Idiopathic Diseases of huMan (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case review. Methods: Here we describe the IDIOM study operational protocol and initial results. Results: 121 cases underwent first tier review by the principal investigators to determine if the primary inclusion criteria were satisfied, 59 (48.8%) underwent second tier review by our clinician-scientist review panel, and 17 (14.0%) patients and their family members were enrolled. 60% of cases resulted in a plausible molecular diagnosis. 18% of cases resulted in a confirmed molecular diagnosis. 2 of 3 confirmed cases led to the identification of novel gene-disease relationships. In the third confirmed case, a previously described but unrecognized disease was revealed. In all three confirmed cases, a new clinical management strategy was initiated based on the genetic findings. Conclusions: Genome sequencing provides tangible clinical benefit for individuals with idiopathic genetic disease, not only in the context of molecular genetic diagnosis of known rare conditions, but also in cases where prior clinical information regarding a new genetic disorder is lacking. äA Genome Sequencing Program for Novel Undiagnosed Diseases (epmc).pdf DeepDyve Pubget Overpricing