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10.1038/ejhg.2014.123 http://scihub22266oqcxt.onion/10.1038/ejhg.2014.123 C4666492!4666492 !25074467     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25074467 &cmd=llinks): Failed to open stream: HTTP request failed! 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Phenome-wide association studies (PheWASs) for functional variants |pdf=|usr=}}{{25074467 }} gab.com Text Phenome-wide association studies (PheWASs) for functional variants JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25074467 #FOAvip The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS is a phenotype-to-genotype approach. It is now possible to conduct a converse genotype-to-phenotype approach using extensive electronic medical records to define a phenome. This approach associates a single genetic variant with many phenotypes across the phenome and is called a phenome-wide association study (PheWAS). The majority of PheWASs conducted have focused on variants identified previously by GWASs. This approach has been efficient for rediscovering gene-disease associations while also identifying pleiotropic effects for some single-nucleotide polymorphisms (SNPs). However, the use of SNPs identified by GWAS in a PheWAS is limited by the inherent properties of the GWAS SNPs, including weak effect sizes and difficulty when translating discoveries to function. To address these challenges, we conducted a PheWAS on 105 presumed functional stop-gain and stop-loss variants genotyped on 4235 Marshfield Clinic patients. Associations were validated on an additional 10?640 Marshfield Clinic patients. PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associated with age-related macular degeneration (AMD). These results demonstrate that focusing on functional variants may be an effective approach when conducting a PheWAS. Twit Text FOAVip Phenome-wide association studies (PheWASs) for functional variants ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25074467 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25074467 #FOAvip English Wikipedia <ref>{{Cite pmid|25074467 }}</ref> Phenome-wide association studies (PheWASs) for functional variants #MMPMID25074467 Ye Z ; Mayer J ; Ivacic L ; Zhou Z ; He M ; Schrodi SJ ; Page D ; Brilliant MH ; Hebbring SJ Eur J Hum Genet 2015[Apr]; 23 (4 ): 523-9 PMID25074467 show ga The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS is a phenotype-to-genotype approach. It is now possible to conduct a converse genotype-to-phenotype approach using extensive electronic medical records to define a phenome. This approach associates a single genetic variant with many phenotypes across the phenome and is called a phenome-wide association study (PheWAS). The majority of PheWASs conducted have focused on variants identified previously by GWASs. This approach has been efficient for rediscovering gene-disease associations while also identifying pleiotropic effects for some single-nucleotide polymorphisms (SNPs). However, the use of SNPs identified by GWAS in a PheWAS is limited by the inherent properties of the GWAS SNPs, including weak effect sizes and difficulty when translating discoveries to function. To address these challenges, we conducted a PheWAS on 105 presumed functional stop-gain and stop-loss variants genotyped on 4235 Marshfield Clinic patients. Associations were validated on an additional 10?640 Marshfield Clinic patients. PheWAS results indicate that a nonsense variant in ARMS2 (rs2736911) is associated with age-related macular degeneration (AMD). These results demonstrate that focusing on functional variants may be an effective approach when conducting a PheWAS. |*Phenotype [MESH] |*Polymorphism, Single Nucleotide [MESH] |Databases, Genetic [MESH] |Electronic Health Records [MESH] |Genetic Predisposition to Disease/genetics [MESH] |Genome-Wide Association Study/*methods [MESH] |Genotype [MESH] |Humans [MESH] |Macular Degeneration/genetics [MESH] |Proteins/genetics [MESH]Phenome-wide association studies (PheWASs) for functional variants (epmc).pdf DeepDyve Pubget Overpricing