whereas rs11556924, rs17400325 and rs3922468 were associated with traits that may affect pubertal timing (birth weight, height, and bone mineral density). Ten variants were not previously associated with any GWAS in the GWAS catalogue, including rs407...
[2]https://www.ebi.ac.uk/training/online/courses/gwas-catalogue-exploring-snp-trait-associations/what-is-gwas-catalog/what-are-genome-wide-association-studies-gwas/
这些表明sQTL可能是重要且复杂的机制,GWAS相关变体通过该机制影响性状。(这一部分研究相对于eQTL少得多,不太被人关注)查了下,有两个数据库可能有用:eQTL Catalogue(剪接数据比较专用),QTLbase(各种qtl) 1.3 关于tfbs的部分略 1.4 调控区域活性检测(看不懂没意思) CAGE能够确定TSS的确切位置以及基因的表达水平,可...
To identify novel loci, we considered index SNPs falling outside 400 kb of a SNP previously associated with one of the following: self-report sleep duration or physical activity from the NHGRI-EBI GWAS catalogue35, CHARGE21and CARe62consortia; an analysis of our accelerometer-measured overall ...
An analysis of 3,604 GWAS from the NHGRI-EBI GWAS catalogue yielded at least one significant disease/trait-tissue association for 2,057 GWAS, including >400 associations specific to epigenomic marks in immune tissues and cell types, >30 associations specific to heart tissue, and >60 associations...
这些表明sQTL可能是重要且复杂的机制,GWAS相关变体通过该机制影响性状。(这一部分研究相对于eQTL少得多,不太被人关注)查了下,有两个数据库可能有用:eQTL Catalogue(剪接数据比较专用),QTLbase(各种qtl) 1.3 关于tfbs的部分略 1.4 调控区域活性检测(看不懂没意思)...
These methods are helping researchers to catalogue cell types and states in both healthy and diseased tissues, and determine which cell models are most relevant for V2F analysis. For example, a recent study of the gene expression profile of gut tissue cells found that changes associated with ...
After fifteen years of genome-wide association studies (GWAS) in Parkinson's disease (PD), what have we learned? Addressing this question will help catalogue the progress made towards elucidating disease mechanisms, improving the clinical utility of the identified loci, and envisioning how we can ...
tabix-p vcf example.vcf.gz# convert VCF to PLINK# To build PLINK compatible files from the VCF files, duplicate positions and SNP id need to be merged or removed.# remove all duplicate entries.# Catalogue duplicate SNP id:grep-v'^#'<(zcatALL.autosomes.phase3_shapeit2_mvncall_integrated_...
eQTL catalogue: a compendium of uniformly processed human gene expression and splicing QTLs bioRxiv (2020), 10.1101/2020.01.29.924266 Google Scholar Koscielny et al., 2014 G. Koscielny, G. Yaikhom, V. Iyer, T.F. Meehan, H. Morgan, J. Atienza-Herrero, A. Blake, C. Chen, R. Easty, ...