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10.1186/s12882-015-0148-8 http://scihub22266oqcxt.onion/10.1186/s12882-015-0148-8 C4570515!4570515!26374634     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       BMC+Nephrol 2015 ; 16 (ä): ä Nephropedia Template TP {{tp|p=26374634|t=2015. A protocol for the identification and validation of novel genetic causes of kidney disease |pdf=|usr=}}{{26374634}} gab.com Text A protocol for the identification and validation of novel genetic causes of kidney disease JO: BMC Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=26374634 #FOAvip Background: Genetic renal diseases (GRD) are a heterogeneous and incompletely understood group of disorders accounting for approximately 10 % of those diagnosed with kidney disease. The advent of Next Generation sequencing and new approaches to disease modelling may allow the identification and validation of novel genetic variants in patients with previously incompletely explained or understood GRD. Methods/Design: This study will recruit participants in families/trios from a multidisciplinary sub-specialty Renal Genetics Clinic where known genetic causes of GRD have been excluded or where genetic testing is not available. After informed patient consent, whole exome and/or genome sequencing will be performed with bioinformatics analysis undertaken using a customised variant assessment tool. A rigorous process for participant data management will be undertaken. Novel genetic findings will be validated using patient-derived induced pluripotent stem cells via differentiation to renal and relevant extra-renal tissue phenotypes in vitro. A process for managing the risk of incidental findings and the return of study results to participants has been developed. Discussion: This investigator-initiated approach brings together experts in nephrology, clinical and molecular genetics, pathology and developmental biology to discover and validate novel genetic causes for patients in Australia affected by GRD without a known genetic aetiology or pathobiology. Twit Text FOAVip A protocol for the identification and validation of novel genetic causes of kidney disease ????BMC Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=26374634 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26374634 #FOAvip English Wikipedia <ref>{{Cite pmid|26374634}}</ref> A protocol for the identification and validation of novel genetic causes of kidney disease #MMPMID26374634 Mallett A; Patel C; Maier B; McGaughran J; Gabbett M; Takasato M; Cameron A; Trnka P; I. Alexander S; Rangan G; Tchan MC; Caruana G; John G; Quinlan C; McCarthy HJ; Hyland V; E. Hoy W; Wolvetang E; Taft R; Simons C; Healy H; Little M BMC Nephrol 2015[]; 16 (ä): ä PMID26374634show ga Background: Genetic renal diseases (GRD) are a heterogeneous and incompletely understood group of disorders accounting for approximately 10 % of those diagnosed with kidney disease. The advent of Next Generation sequencing and new approaches to disease modelling may allow the identification and validation of novel genetic variants in patients with previously incompletely explained or understood GRD. Methods/Design: This study will recruit participants in families/trios from a multidisciplinary sub-specialty Renal Genetics Clinic where known genetic causes of GRD have been excluded or where genetic testing is not available. After informed patient consent, whole exome and/or genome sequencing will be performed with bioinformatics analysis undertaken using a customised variant assessment tool. A rigorous process for participant data management will be undertaken. Novel genetic findings will be validated using patient-derived induced pluripotent stem cells via differentiation to renal and relevant extra-renal tissue phenotypes in vitro. A process for managing the risk of incidental findings and the return of study results to participants has been developed. Discussion: This investigator-initiated approach brings together experts in nephrology, clinical and molecular genetics, pathology and developmental biology to discover and validate novel genetic causes for patients in Australia affected by GRD without a known genetic aetiology or pathobiology. äA protocol for the identification and validation of novel genetic caus(epmc).pdf DeepDyve Pubget Overpricing