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10.1056/NEJMsr1406261 http://scihub22266oqcxt.onion/10.1056/NEJMsr1406261 C4474187!4474187 !26014595     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26014595 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       N+Engl+J+Med 2015 ; 372 (23 ): 2235-42 Nephropedia Template TP {{tp|p=26014595 |t=2015. ClinGen--the Clinical Genome Resource |pdf=|usr=}}{{26014595 }} gab.com Text ClinGen--the Clinical Genome Resource JO: N Engl J Med http://www.kidney.de/pget.php?&tw=1&pmid=26014595 #FOAvip On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient?s family pursues genetic testing that shows a ?likely pathogenic? variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as ?likely benign? by another laboratory that uses more recently derived population-frequency data. A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic. Family members are retested, and one member who previously tested negative is now found to be positive for this new variant. An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death. Twit Text FOAVip ClinGen--the Clinical Genome Resource ????N Engl J Med http://www.kidney.de/pget.php?&tw=1&pmid=26014595 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26014595 #FOAvip English Wikipedia <ref>{{Cite pmid|26014595 }}</ref> ClinGen--the Clinical Genome Resource #MMPMID26014595 Rehm HL ; Berg JS ; Brooks LD ; Bustamante CD ; Evans JP ; Landrum MJ ; Ledbetter DH ; Maglott DR ; Martin CL ; Nussbaum RL ; Plon SE ; Ramos EM ; Sherry ST ; Watson MS N Engl J Med 2015[Jun]; 372 (23 ): 2235-42 PMID26014595 show ga On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient?s family pursues genetic testing that shows a ?likely pathogenic? variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as ?likely benign? by another laboratory that uses more recently derived population-frequency data. A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic. Family members are retested, and one member who previously tested negative is now found to be positive for this new variant. An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death. |*Databases, Genetic [MESH] |*Genetic Variation [MESH] |*Genome, Human [MESH] |Genetic Diseases, Inborn/*genetics [MESH] |Genetic Predisposition to Disease/*genetics [MESH] |Genetic Testing [MESH] |Humans [MESH] |National Library of Medicine (U.S.) [MESH]ClinGen--the Clinical Genome Resource (epmc).pdf DeepDyve Pubget Overpricing