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10.1371/journal.pcbi.1004647 http://scihub22266oqcxt.onion/10.1371/journal.pcbi.1004647 C4671652!4671652!26642228     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 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       PLoS+Comput+Biol 2015 ; 11 (12): ä Nephropedia Template TP {{tp|p=26642228|t=2015. The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome |pdf=|usr=}}{{26642228}} gab.com Text The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome JO: PLoS Comput Biol http://www.kidney.de/pget.php?&tw=1&pmid=26642228 #FOAvip Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene?s tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546 individuals. We observed 39,893 truncating variants affecting 12,062 genes, which significantly differed from an expectation of 12,916 genes under a model of neutral de novo mutation (p<10?4). Extrapolating this to increasing numbers of sequenced individuals, we estimate that 10.8% of human genes do not tolerate heterozygous truncating variants. An additional 10 to 15% of truncated genes may be rescued by incomplete penetrance or compensatory mutations, or because the truncating variants are of limited functional impact. The study of protein truncating variants delineates the essential genome and, more generally, identifies rare heterozygous variants as an unexplored source of diversity of phenotypic traits and diseases. Twit Text FOAVip The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome ????PLoS Comput Biol http://www.kidney.de/pget.php?&tw=1&pmid=26642228 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26642228 #FOAvip English Wikipedia <ref>{{Cite pmid|26642228}}</ref> The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome #MMPMID26642228 Bartha I; Rausell A; McLaren PJ; Mohammadi P; Tardaguila M; Chaturvedi N; Fellay J; Telenti A PLoS Comput Biol 2015[Dec]; 11 (12): ä PMID26642228show ga Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene?s tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546 individuals. We observed 39,893 truncating variants affecting 12,062 genes, which significantly differed from an expectation of 12,916 genes under a model of neutral de novo mutation (p<10?4). Extrapolating this to increasing numbers of sequenced individuals, we estimate that 10.8% of human genes do not tolerate heterozygous truncating variants. An additional 10 to 15% of truncated genes may be rescued by incomplete penetrance or compensatory mutations, or because the truncating variants are of limited functional impact. The study of protein truncating variants delineates the essential genome and, more generally, identifies rare heterozygous variants as an unexplored source of diversity of phenotypic traits and diseases. äThe Characteristics of Heterozygous Protein Truncating Variants in the(epmc).pdf DeepDyve Pubget Overpricing