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10.1002/humu.23377 http://scihub22266oqcxt.onion/10.1002/humu.23377 C5838408!5838408!29197136     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2018 ; 39 (3): 365-70 Nephropedia Template TP {{tp|p=29197136|t=2018. Properties of human genes guided by their enrichment in rare and common variants |pdf=|usr=}}{{29197136}} gab.com Text Properties of human genes guided by their enrichment in rare and common variants JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=29197136 #FOAvip We analyzed 563,099 common (minor allele frequency, MAF?0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease?causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein?coding genes. Three novel sets of genes were identified: those enriched in rare variants (n = 32 genes), in common variants (n = 282 genes), and in disease?causing variants (n = 800 genes). Genes enriched in rare variants have far greater similarities in terms of biological and network properties to genes enriched in disease?causing variants, than to genes enriched in common variants. However, in half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease?causing variants have been identified in major, publicly available databases. Thus, genetic variants in these genes are strong candidates for disease and their identification, as part of sequencing studies, should prompt further in vitro analyses. Twit Text FOAVip Properties of human genes guided by their enrichment in rare and common variants ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=29197136 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29197136 #FOAvip English Wikipedia <ref>{{Cite pmid|29197136}}</ref> Properties of human genes guided by their enrichment in rare and common variants #MMPMID29197136 Alhuzimi E; Leal LG; Sternberg MJ; David A Hum Mutat 2018[Mar]; 39 (3): 365-70 PMID29197136show ga We analyzed 563,099 common (minor allele frequency, MAF?0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease?causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein?coding genes. Three novel sets of genes were identified: those enriched in rare variants (n = 32 genes), in common variants (n = 282 genes), and in disease?causing variants (n = 800 genes). Genes enriched in rare variants have far greater similarities in terms of biological and network properties to genes enriched in disease?causing variants, than to genes enriched in common variants. However, in half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease?causing variants have been identified in major, publicly available databases. Thus, genetic variants in these genes are strong candidates for disease and their identification, as part of sequencing studies, should prompt further in vitro analyses. äProperties of human genes guided by their enrichment in rare and commo(epmc).pdf DeepDyve Pubget Overpricing