586 Missense SNPs were retrieved from dbSNP, DisGeNET, ClinVar, and LitVar databases, and then analyzed using nine different functionality prediction servers such as SIFT, PolyPhen-2, PROVEAN, PhD-SNP, etc. These sieved the most deleterious SNPs, which was then followed by the analysis of ...
这两大类的分析方法截然不同,coding主要直接影响了mRNA和蛋白;而noncoding,主要是影响调控。 coding编码区如何分析? 通常有很多pipeline来预测WGS等得到的SNP的功能,如annovar等数据库。 protein binding domain 综述: Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation:...
x-axis: offset from SNP position (bp), y-axis: stranded read count. (f) Replication of the effect at time 0 (mesenchymal stem cells) with ATAC-seq. (g) BMI-dependent variant association analysis. Bar plots represent the beta of the ...
High-throughput identification of functional regulatory SNPs in systemic lupus erythematosus Article Open access 09 August 2024 An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping Article Open access 03 March 2023 Introduction...
They add, however, "We are still unable to replace this human SNP at rs17114036 in adult aortic endothelium, although we have tried." The next step for the authors may be the development of nanoparticles that can preferentially bind to the cells under stress and deliver therapeutics to increas...
The combined database holds annotations for 4,965,073 regulatory as well as 133,505 coding human SNPs and 14,935 disease mutations, and phenotypic descriptions of 43,797 human proteins and is accessible via http://snpeffect.vib.be and http://pupasuite.bioinfo.cipf.es/. 展开 关键词: ...
Linc SNP2.0:http://210.46.80.146/lincsnp/search.php lncLocator:http://www.csbio./bioinf/lncLocator/ RNAlocate:http://www./rnalocate/ CPC:http://cpc.cbi.pku.edu.cn/ CPAT:http://lilab.research./cpat/index.php miRFold web server:http://rna.tbi./cgi-bin/RNAfold.cgi ...
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature genetics. 2012;44(4):369–75, s1-3. Article CAS PubMed PubMed Central Google Scholar Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, et al....
One novel variant was linked to the relatively well characterized rs9888739 SNP at the ITGAM locus, and may explain some of the SLE heritability at this site. Our study demonstrates that non-coding regulatory elements can contain private sequence variants affecting gene expression, which may ...
lncRNAs. We identified 148,699 SNPs in 9,147 lncRNAs and 372,730 SNPs in 21,452 mRNA transcripts based on theS. scrofadbSNP database (build 140)26. The density of SNPs in novel lncRNAs (15.47/kb) was significantly higher than in protein-coding genes (8.57/kb), whereas the SNP density...