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10.1038/s41525-018-0047-6 http://scihub22266oqcxt.onion/10.1038/s41525-018-0047-6 C5861096!5861096!29581887     free     free     free Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       NPJ+Genom+Med 2018 ; 3 (ä): ä Nephropedia Template TP {{tp|p=29581887|t=2018. Improving imputation in disease-relevant regions: lessons from cystic fibrosis |pdf=|usr=}}{{29581887}} gab.com Text Improving imputation in disease-relevant regions: lessons from cystic fibrosis JO: NPJ Genom Med http://www.kidney.de/pget.php?&tw=1&pmid=29581887 #FOAvip Does genotype imputation with public reference panels identify variants contributing to disease? Genotype imputation using the 1000 Genomes Project (1KG; 2504 individuals) displayed poor coverage at the causal cystic fibrosis (CF) transmembrane conductance regulator (CFTR) locus for the International CF Gene Modifier Consortium. Imputation with the larger Haplotype Reference Consortium (HRC; 32,470 individuals) displayed improved coverage but low sensitivity of variants clinically relevant for CF. A hybrid reference that combined whole genome sequencing (WGS) from 101 CF individuals with the 1KG imputed a greater number of single-nucleotide variants (SNVs) that would be analyzed in a genetic association study (r2???0.3 and MAF???0.5%) than imputation with the HRC, while the HRC excelled in the lower frequency spectrum. Using the 1KG or HRC as reference panels missed the most common CF-causing variants or displayed low imputation accuracy. Designs that incorporate population-specific WGS can improve imputation accuracy at disease-specific loci, while imputation using public data sets can omit disease-relevant genotypes. Twit Text FOAVip Improving imputation in disease-relevant regions: lessons from cystic fibrosis ????NPJ Genom Med http://www.kidney.de/pget.php?&tw=1&pmid=29581887 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29581887 #FOAvip English Wikipedia <ref>{{Cite pmid|29581887}}</ref> Improving imputation in disease-relevant regions: lessons from cystic fibrosis #MMPMID29581887 Panjwani N; Xiao B; Xu L; Gong J; Keenan K; Lin F; He G; Baskurt Z; Kim S; Zhang L; Esmaeili M; Blackman S; Scherer SW; Corvol H; Drumm M; Knowles M; Cutting G; Rommens JM; Sun L; Strug LJ NPJ Genom Med 2018[]; 3 (ä): ä PMID29581887show ga Does genotype imputation with public reference panels identify variants contributing to disease? Genotype imputation using the 1000 Genomes Project (1KG; 2504 individuals) displayed poor coverage at the causal cystic fibrosis (CF) transmembrane conductance regulator (CFTR) locus for the International CF Gene Modifier Consortium. Imputation with the larger Haplotype Reference Consortium (HRC; 32,470 individuals) displayed improved coverage but low sensitivity of variants clinically relevant for CF. A hybrid reference that combined whole genome sequencing (WGS) from 101 CF individuals with the 1KG imputed a greater number of single-nucleotide variants (SNVs) that would be analyzed in a genetic association study (r2???0.3 and MAF???0.5%) than imputation with the HRC, while the HRC excelled in the lower frequency spectrum. Using the 1KG or HRC as reference panels missed the most common CF-causing variants or displayed low imputation accuracy. Designs that incorporate population-specific WGS can improve imputation accuracy at disease-specific loci, while imputation using public data sets can omit disease-relevant genotypes. äImproving imputation in disease-relevant regions: lessons from cystic (epmc).pdf DeepDyve Pubget Overpricing