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10.1073/pnas.1704117114 http://scihub22266oqcxt.onion/10.1073/pnas.1704117114 C5441760!5441760!28465436     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 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Proc+Natl+Acad+Sci+U+S+A 2017 ; 114 (20): E3984-92 Nephropedia Template TP {{tp|p=28465436|t=2017. Structural variants caused by Alu insertions are associated with risks for many human diseases |pdf=|usr=}}{{28465436}} gab.com Text Structural variants caused by Alu insertions are associated with risks for many human diseases JO: Proc Natl Acad Sci U S A http://www.kidney.de/pget.php?&tw=1&pmid=28465436 #FOAvip Repetitive sequences comprise a large portion of the genome and are often thought of as ?junk DNA.? They are a significant source of genetic variation, particularly Alu elements. Their functional consequence is frequently dismissed. Here, we test the hypothesis that Alu polymorphisms contribute to phenotypic differences between individuals. We identified an enrichment of Alu polymorphisms in regions of the genome associated with human disease risk. Further, we find 44 instances where the trait-associated SNP is a surrogate for presence or absence of an Alu insertion. This finding indicates that the Alu may be the variant effecting disease risk, an intriguing possibility given its size and regulatory potential. This work emphasizes the importance of considering repeat polymorphisms in functional variant analysis. Twit Text FOAVip Structural variants caused by Alu insertions are associated with risks for many human diseases ????Proc Natl Acad Sci U S A http://www.kidney.de/pget.php?&tw=1&pmid=28465436 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28465436 #FOAvip English Wikipedia <ref>{{Cite pmid|28465436}}</ref> Structural variants caused by Alu insertions are associated with risks for many human diseases #MMPMID28465436 Payer LM; Steranka JP; Yang WR; Kryatova M; Medabalimi S; Ardeljan D; Liu C; Boeke JD; Avramopoulos D; Burns KH Proc Natl Acad Sci U S A 2017[May]; 114 (20): E3984-92 PMID28465436show ga Repetitive sequences comprise a large portion of the genome and are often thought of as ?junk DNA.? They are a significant source of genetic variation, particularly Alu elements. Their functional consequence is frequently dismissed. Here, we test the hypothesis that Alu polymorphisms contribute to phenotypic differences between individuals. We identified an enrichment of Alu polymorphisms in regions of the genome associated with human disease risk. Further, we find 44 instances where the trait-associated SNP is a surrogate for presence or absence of an Alu insertion. This finding indicates that the Alu may be the variant effecting disease risk, an intriguing possibility given its size and regulatory potential. This work emphasizes the importance of considering repeat polymorphisms in functional variant analysis. äStructural variants caused by Alu insertions are associated with risks(epmc).pdf DeepDyve Pubget Overpricing